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1. Guruprasad Y, Prabhu PR: Gorlin-Goltz syndrome with situs oppositus. Natl J Maxillofac Surg; 2010 Jan;1(1):58-62

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome with situs oppositus.
  • Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, is caused due to a genetic alteration produced by a mutation in the "Patched" tumor suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found.
  • This syndrome shows a high penetrance and variable expressiveness.
  • It is a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri.
  • The latter include numerous skeletal, dermatology related and neurological anomalies, among others.
  • In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasia.
  • Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristics in order to make a diagnosis, to provide an early preventive treatment and to establish right genetic advice.
  • We report a rare association of Gorlin-Goltz syndrome with situs oppositus.

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  • (PMID = 22442553.001).
  • [ISSN] 0975-5950
  • [Journal-full-title] National journal of maxillofacial surgery
  • [ISO-abbreviation] Natl J Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3304179
  • [Keywords] NOTNLM ; Basocellular carcinoma / Gorlin-Goltz syndrome / odontogenic keratocyst / situs opposites
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2. De-Domingo B, González F, Lorenzo P: [Gorlin syndrome (nevoid basal cell carcinoma syndrome)]. Arch Soc Esp Oftalmol; 2008 May;83(5):321-4
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gorlin syndrome (nevoid basal cell carcinoma syndrome)].
  • [Transliterated title] Síndrome de Gorlin (síndrome nevoide basocelular).
  • CLINICAL CASE: A 77 year-old male patient with Parkinson's disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye.
  • DISCUSSION: Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal and neurological anomalies.
  • The presence of multiple basal cell carcinomas on the eyelids in a child or in a young patient should alert ophthalmologists to the possibility of this syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Eyelid Neoplasms / pathology

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  • (PMID = 18464182.001).
  • [ISSN] 0365-6691
  • [Journal-full-title] Archivos de la Sociedad Española de Oftalmología
  • [ISO-abbreviation] Arch Soc Esp Oftalmol
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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3. Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C: Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report. Dermatol Online J; 2010;16(9):6
SciCrunch. KEGG: Data: Disease Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.
  • Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity.
  • This syndrome is characterized by developmental anomalies, such as odentogenic keratocysts of the mandible and postnatal tumors, especially multiple basal cell carcinomas (BCCs).
  • The prevalence of this syndrome is variously estimated to be 1 in 60,000 to 1 in 120,000 persons.
  • Mutation in a tumor suppressor, the PTCH1 gene residing on long arm of Ch 9, is responsible for the development of many postnatal tumors.
  • Patients with Gorlin syndrome show multiple abnormalities, none of which is unique to this condition.
  • Our case had almost all the features of this rare syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Diagnosis, Differential. Female. Humans. Mandibular Diseases / radiography. Odontogenic Cysts / radiography. Ribs / abnormalities. Ribs / radiography


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4. Lo Muzio L: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis; 2008;3:32
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
  • Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms.
  • Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).
  • Recurrent jaw cysts occur in 90% of patients.
  • Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent.
  • About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death.
  • NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.
  • Clinical diagnosis relies on specific criteria.
  • Gene mutation analysis confirms the diagnosis.
  • Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling).
  • Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome).
  • Keratocysts are treated by surgical removal.
  • Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial.
  • Patients with NBCCS should strictly avoid an excessive sun exposure.
  • [MeSH-major] Basal Cell Nevus Syndrome
  • [MeSH-minor] Adolescent. Adult. Bone Neoplasms / epidemiology. Bone Neoplasms / genetics. Bone Neoplasms / pathology. Bone and Bones / abnormalities. Bone and Bones / radiography. Cerebellar Neoplasms / epidemiology. Cerebellar Neoplasms / genetics. Cerebellar Neoplasms / pathology. Child. Female. Humans. Male. Medulloblastoma / epidemiology. Medulloblastoma / genetics. Medulloblastoma / pathology. Odontogenic Cysts / epidemiology. Odontogenic Cysts / genetics. Odontogenic Cysts / pathology. Skin Neoplasms / epidemiology. Skin Neoplasms / genetics. Skin Neoplasms / pathology. Young Adult

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  • (PMID = 19032739.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 164
  • [Other-IDs] NLM/ PMC2607262
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5. Karthiga KS, Sivapatha Sundharam B, Manikandan R: Nevoid basal cell carcinoma syndrome. Indian J Dent Res; 2006 Jan-Mar;17(1):50-3
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome.
  • Binkley and Johnson first reported this syndrome in 1951.
  • But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS).
  • NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity.
  • NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities.
  • One such case of Gorlin-Goltz syndrome is reported here with good illustrations.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Maxillary Neoplasms / diagnosis
  • [MeSH-minor] Adolescent. Diagnosis, Differential. Female. Humans. Mandibular Diseases / diagnosis. Maxillary Diseases / diagnosis. Odontogenic Cysts / diagnosis. Ribs / abnormalities. Tooth, Impacted / diagnosis. Tooth, Unerupted / diagnosis

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  • (PMID = 16900896.001).
  • [ISSN] 0970-9290
  • [Journal-full-title] Indian journal of dental research : official publication of Indian Society for Dental Research
  • [ISO-abbreviation] Indian J Dent Res
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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6. Omrani H, Hui Bon Hoa I, Bennis H, Lehmann M, Zerr V: [Recurrent ovarian fibromas in condition of Gorlin syndrome]. J Gynecol Obstet Biol Reprod (Paris); 2010 Nov;39(7):584-7
MedlinePlus Health Information. consumer health - Ovarian Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Recurrent ovarian fibromas in condition of Gorlin syndrome].
  • [Transliterated title] Fibromes ovariens récidivants dans le cadre du syndrome de Gorlin: à propos d'un cas.
  • Gorlin syndrome also known as basal cell nevus syndrome is a rare autosomal dominant condition with variable expression.
  • This syndrome is characterized by many anomalies of development and by the propensity of developing multiple neoplasms.
  • We report a case of a 20-years-old French patient who has relapsing ovarian bilateral fibromas in condition of Gorlin syndrome.
  • These fibromas are present in 25 % of Gorlin syndrome cases, which often are bilateral.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Fibroma / diagnosis. Ovarian Neoplasms / diagnosis

  • Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.
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  • [Copyright] Copyright © 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20599329.001).
  • [ISSN] 1773-0430
  • [Journal-full-title] Journal de gynécologie, obstétrique et biologie de la reproduction
  • [ISO-abbreviation] J Gynecol Obstet Biol Reprod (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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7. Aram S, Moghaddam NA: Bilateral ovarian fibroma associated with Gorlin syndrome. J Res Med Sci; 2009 Jan;14(1):57-61
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bilateral ovarian fibroma associated with Gorlin syndrome.
  • Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare inherited multisystem disorder.
  • This paper presents a 22-years-old Iranian woman with this syndrome whose past history was multiple keratocysts of maxillary bone.
  • Accurate diagnosis is only possible with close attention to the familial and past medical history and physical examination.

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  • (PMID = 21772861.001).
  • [ISSN] 1735-1995
  • [Journal-full-title] Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences
  • [ISO-abbreviation] J Res Med Sci
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Iran
  • [Other-IDs] NLM/ PMC3129069
  • [Keywords] NOTNLM ; Gorlin syndrome / multiple keratocysts / ovarian fibroma
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8. Kayser C, Kayser G, Baier P, Hopt UT, Eggstein S: Surgery for cystic lymphangioma in Gorlin-Goltz syndrome. Langenbecks Arch Surg; 2007 Mar;392(2):203-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Surgery for cystic lymphangioma in Gorlin-Goltz syndrome.
  • INTRODUCTION: We present a case of three major lymphomesenteric cysts in a female patient with known basal cell nevus syndrome (BCNS or Gorlin-Goltz syndrome).
  • DISCUSSION: Although those cysts have been reported to appear in this syndrome, the exact prevalence is not known.
  • CONCLUSION: By causing severe symptoms, cystic lymphangiomas are an important complication of the BCNS despite of their seldom occurrence.
  • Surgeons confronted with intraabdominal masses in a patient with BCNS should always be aware of this manifestation of the disorder and plan interdisciplinary operations.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Lymphangioma, Cystic / etiology. Lymphangioma, Cystic / surgery

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  • (PMID = 17221269.001).
  • [ISSN] 1435-2443
  • [Journal-full-title] Langenbeck's archives of surgery
  • [ISO-abbreviation] Langenbecks Arch Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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9. Dixit S, Acharya S, Dixit PB: Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome. Kathmandu Univ Med J (KUMJ); 2009 Oct-Dec;7(28):414-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder with a predisposition to cancer.
  • Features like basal cell carcinoma, odontogenic keratocysts, calcification of falx cerebri, bifid ribs, pits on palms and soles and hypertelorism are evident.
  • A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth.
  • [MeSH-major] Focal Dermal Hypoplasia / diagnosis. Mandibular Diseases / radiography. Odontogenic Cysts / radiography
  • [MeSH-minor] Adolescent. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / radiography. Basal Cell Nevus Syndrome / surgery. Female. Follow-Up Studies. Humans. Rare Diseases. Risk Assessment. Severity of Illness Index. Tomography, X-Ray Computed. Treatment Outcome

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  • (PMID = 20502085.001).
  • [ISSN] 1812-2078
  • [Journal-full-title] Kathmandu University medical journal (KUMJ)
  • [ISO-abbreviation] Kathmandu Univ Med J (KUMJ)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Nepal
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10. Marín Romero O, Hernández Marín I, Ayala Ruiz AR: [Hypogonadism caused by Gorlin-Goltz syndrome]. Ginecol Obstet Mex; 2006 Sep;74(9):493-8
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  • [Title] [Hypogonadism caused by Gorlin-Goltz syndrome].
  • [Transliterated title] Hipogonadismo causado por el síndrome de Gorlin-Goltz.
  • The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise.
  • The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications.
  • Apparently, reproductive problems reported had been rarely associated with this syndrome.
  • We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six.
  • At puberty, an odontogenic cyst of the jaw was noted and enucleated.
  • He also showed facial nevi in neck, thorax and abdomen.
  • It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Hypogonadism / etiology

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  • (PMID = 17133965.001).
  • [ISSN] 0300-9041
  • [Journal-full-title] Ginecología y obstetricia de México
  • [ISO-abbreviation] Ginecol Obstet Mex
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Mexico
  • [Chemical-registry-number] 3XMK78S47O / Testosterone
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11. Yucetas S, Cetiner S, Oygur T: Suspected familial odontogenic keratocysts related to Gorlin Goltz syndrome. Saudi Med J; 2006 Feb;27(2):250-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Suspected familial odontogenic keratocysts related to Gorlin Goltz syndrome.
  • This report represents the suspected familial case series of odontogenic keratocysts OKCs related to Gorlin Goltz syndrome GGS, a rare genetic disorder characterized mainly by multiple basal cell carcinomas, OKCs and other less frequent skeletal and neurological manifestations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics

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  • (PMID = 16501688.001).
  • [ISSN] 0379-5284
  • [Journal-full-title] Saudi medical journal
  • [ISO-abbreviation] Saudi Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Saudi Arabia
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12. Lambrecht JT, Stübinger S, Siewert B, Härle F: [Calcification of the falx cerebri. A pathognomonic symptom of Gorlin-Goltz syndrome]. HNO; 2005 Aug;53(8):701-4, 706
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Calcification of the falx cerebri. A pathognomonic symptom of Gorlin-Goltz syndrome].
  • [Transliterated title] Verkalkung der Falx cerebri. Ein pathognomonisches Zeichen beim Gorlin-Goltz-Syndrom.
  • BACKGROUND: Gorlin-Goltz syndrome is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities and intracranial calcifications.
  • Those in group 4 could be found only within Gorlin-Goltz syndrome patients, and differed significantly in form and extent from the remaining three groups.
  • CONCLUSION: The plurilamellar appearance of this group could be rated as a pathognomonic symptom of the Gorlin-Goltz syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnostic imaging. Basal Cell Nevus Syndrome / epidemiology. Brain Diseases / diagnostic imaging. Brain Diseases / epidemiology. Calcinosis / diagnostic imaging. Calcinosis / epidemiology. Dura Mater / diagnostic imaging

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  • (PMID = 15696312.001).
  • [ISSN] 0017-6192
  • [Journal-full-title] HNO
  • [ISO-abbreviation] HNO
  • [Language] ger
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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13. Acocella A, Sacco R, Bertolai R, Sacco N: Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review. Minerva Stomatol; 2009 Jan-Feb;58(1-2):43-53
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review.
  • Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a well-known disorder with distinctive symptoms, which are studied since the 1960s.
  • This is an hereditary disease, with autosomal dominant trait, characterised by high penetration and variable expressivity.
  • In particular, the PTCH gene is important both for embryonic structuring and cellular cycle, therefore, its mutation represents a key event for the development of the disease.
  • From a clinical point of view, the syndrome requires a multidisciplinary approach meaning that a successful treatment needs the simultaneous co-operation of different specialists.
  • Thus, a correct treatment entails the following steps: an early detection of the disease, an extended family history and a careful evaluation of symptoms.
  • The aim of this article was to highlight the main pathologic and genetic features of Gorlin-Goltz Syndrome, its outbreak frequency and the main characteristics of the population clusters it is more likely to hit.
  • Furthermore, due to the predisposition of the disease to relapse, a constant clinical follow-up combined with a correct treatment are important.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Adult. Aged. Calcinosis / genetics. Calcinosis / radiography. Carcinoma, Basal Cell / genetics. Carcinoma, Basal Cell / surgery. Chromosomes, Human, Pair 9 / genetics. Dura Mater / pathology. Dura Mater / radiography. Facial Neoplasms / genetics. Facial Neoplasms / surgery. Female. Genes, Dominant. Hedgehog Proteins / genetics. Hedgehog Proteins / physiology. Humans. Jaw Diseases / genetics. Jaw Diseases / surgery. Loss of Heterozygosity. Male. Odontogenic Cysts / genetics. Odontogenic Cysts / surgery. Receptors, Cell Surface / genetics. Receptors, Cell Surface / physiology. Signal Transduction. Tooth Avulsion / genetics. Tooth Avulsion / surgery

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  • (PMID = 19234436.001).
  • [ISSN] 0026-4970
  • [Journal-full-title] Minerva stomatologica
  • [ISO-abbreviation] Minerva Stomatol
  • [Language] eng; ita
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / SHH protein, human; 0 / patched receptors
  • [Number-of-references] 38
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14. Lopes NN, Caran EM, Lee ML, Silva NS, Rocha AC, Macedo CR: Gorlin-Goltz syndrome and neoplasms: a case study. J Clin Pediatr Dent; 2010;35(2):203-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome and neoplasms: a case study.
  • Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity.
  • It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations.
  • Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome.
  • OBJECTIVE: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma.
  • Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias.
  • [MeSH-major] Brain Stem Neoplasms / radiotherapy. Leukemia, Promyelocytic, Acute / pathology. Medulloblastoma / radiotherapy. Neoplasms, Multiple Primary / pathology. Neoplasms, Second Primary / pathology
  • [MeSH-minor] Basal Cell Nevus Syndrome / pathology. Child. Cranial Irradiation. Disease Progression. Fatal Outcome. Follow-Up Studies. Humans. Leukemia, Radiation-Induced / pathology. Male. Neoplasm Recurrence, Local / pathology. Spine / radiation effects

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  • (PMID = 21417126.001).
  • [ISSN] 1053-4628
  • [Journal-full-title] The Journal of clinical pediatric dentistry
  • [ISO-abbreviation] J Clin Pediatr Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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15. Lamon T, Gerard S, Meyer N, Losfeld B, Abellan van Kan G, Balardy L, Vellas B: Exceptional bone metastasis of basal cell carcinoma in Gorlin-Goltz syndrome. Dermatology; 2010;220(1):57-9
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  • [Title] Exceptional bone metastasis of basal cell carcinoma in Gorlin-Goltz syndrome.
  • BACKGROUND: Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm.
  • It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is principally characterized by cutaneous BCC, odontogenic keratocysts, palmar and/or plantar pits, and falx cerebri calcification.
  • OBSERVATION: We report the exceptional clinical observation of a 54-year-old man presenting bone metastasis from BCC in Gorlin-Goltz syndrome.
  • CONCLUSION: Less than 300 cases of metastatic BCC have been reported in the literature.
  • The present case is the second associated with Gorlin-Goltz syndrome.
  • [MeSH-major] Bone Neoplasms / secondary. Carcinoma, Basal Cell / secondary. Focal Dermal Hypoplasia / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] European Continental Ancestry Group. Humans. Male. Middle Aged. Neoplasm Metastasis. Pain / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2009 S. Karger AG, Basel.
  • (PMID = 19996568.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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16. Schütt F, Staff C, Stein T, Hartschuh W, Dithmar S: [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome]. Klin Monbl Augenheilkd; 2007 Aug;224(8):670-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome].
  • [Transliterated title] Photodynamische Therapie von Lidbasaliomen bei 13-jährigem Patienten mit Gorlin-Goltz-Syndrom.
  • BACKGROUND: Gorlin Goltz syndrome is a rare, autosomal dominant inherited disease that is characterised by multiple basal cell carcinomas (BCC) including the periorbital region and eye lids.
  • PATIENT: A 13-year-old boy with Gorlin Goltz syndrome presented with multiple confluent BCC on both eye lids and the skin of neck and trunk.
  • Multiple bilateral periorbital confluent and surgically not removable BCC were treated by topical PDT.
  • RESULTS: Numerous superficial BCC were successfully treated by photodynamic therapy with remarkable cosmetic results.
  • CONCLUSION: In cases of numerous confluent and surgically not removable BCC, PDT represents an effective therapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / drug therapy. Eyelid Neoplasms / pathology. Photochemotherapy / methods

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  • (PMID = 17717785.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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17. Snoeckx A, Vanhoenacker FM, Verhaert K, Chappelle K, Parizel PM: Gorlin-Goltz syndrome in a child: case report and clinical review. JBR-BTR; 2008 Nov-Dec;91(6):235-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome in a child: case report and clinical review.
  • Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws.
  • Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs.
  • Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made.
  • During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts.
  • The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome.
  • This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis
  • [MeSH-minor] Brain / radiography. Child. Comorbidity. Diagnosis, Differential. Follow-Up Studies. Hand / radiography. Humans. Intellectual Disability. Male. Mandible / radiography. Mandible / surgery. Radiography, Thoracic. Rare Diseases. Tomography, X-Ray Computed

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  • (PMID = 19202996.001).
  • [ISSN] 0302-7430
  • [Journal-full-title] JBR-BTR : organe de la Société royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR)
  • [ISO-abbreviation] JBR-BTR
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Belgium
  • [Number-of-references] 11
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18. Wilson C, Murphy M: Conservative management of multiple keratocystic odontogenic tumours in a child with Gorlin-Goltz syndrome: a case report. Eur J Paediatr Dent; 2008 Dec;9(4):195-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Conservative management of multiple keratocystic odontogenic tumours in a child with Gorlin-Goltz syndrome: a case report.
  • BACKGROUND: The recommendations regarding the management of keratocystic odontogenic tumour (KCOT) vary widely in the literature.
  • CASE REPORT: A young patient with Gorlin-Goltz Syndrome and two large mandibular KCOTs is presented.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Malocclusion, Angle Class II / therapy. Neoplasms, Multiple Primary / therapy
  • [MeSH-minor] Child. Follow-Up Studies. Humans. Male. Neoplasm Recurrence, Local / prevention & control. Odontogenic Cysts / complications. Odontogenic Cysts / therapy. Treatment Outcome

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  • (PMID = 19072008.001).
  • [ISSN] 1591-996X
  • [Journal-full-title] European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry
  • [ISO-abbreviation] Eur J Paediatr Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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19. Kolm I, Puig S, Iranzo P, Malvehy J: Dermoscopy in Gorlin-Goltz syndrome. Dermatol Surg; 2006 Jun;32(6):847-51
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Dermoscopy in Gorlin-Goltz syndrome.
  • BACKGROUND: Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder mainly characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw, and volar pits.
  • This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms.
  • MATERIALS AND METHODS: Cutaneous lesions and tumors from five patients affected by GGS were included.
  • Clinical and dermoscopy images were obtained and excision with ulterior histopathology performed in suspicious tumors.
  • CONCLUSION: Dermoscopy can help in the diagnosis of the GGS as well as in the management of affected patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Dermoscopy. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Diagnosis, Differential. Female. Humans. Male

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  • (PMID = 16792654.001).
  • [ISSN] 1076-0512
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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20. Rupprecht M, Mensing CH, Barvencik F, Ittrich H, Heiland M, Rueger JM, Amling M, Pogoda P: [Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years]. Rofo; 2007 Jun;179(6):618-26
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  • [Title] [Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years].
  • [Transliterated title] Skelettale und kutane Charakteristika des nävoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom). Ergebnisse von 8 Patienten aus 12 Jahren.
  • PURPOSE: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies.
  • NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150,000 and diagnosis of this syndrome is often an accidental finding of radiological investigations.
  • The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies.
  • MATERIALS AND METHODS: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed.
  • Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria.
  • The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri.
  • RESULTS: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments.
  • The average age at the time of diagnosis of NBCCS was 49.9 years.
  • The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients).
  • CONCLUSION: Due to limitations in identification of mutations in the PTCH1 gene, clinical and radiological examination still remains a very important factor in the treatment of patients suffering from NBCCS.
  • The knowledge of the varied skeletal manifestations and constellations is therefore essential and correlates with therapeutic consequences.
  • Often chest, rib, spine, skull, and jaw X-rays show the way.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Bone Neoplasms / radiography. Carcinoma, Basal Cell / radiography. Skin Neoplasms / radiography

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  • (PMID = 17492539.001).
  • [ISSN] 1438-9029
  • [Journal-full-title] RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
  • [ISO-abbreviation] Rofo
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 42
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21. Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC: Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet; 2009 Oct;46(10):716-20
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  • [Title] Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
  • BACKGROUND: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin.
  • In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.
  • METHOD: A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described.
  • All patients with the classical features of the syndrome had a detectable mutation.
  • CONCLUSIONS: PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males.

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  • (PMID = 19586929.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Membrane Proteins; EC 2.3.1.- / PORCN protein, human
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22. Mougel F, Debarbieux S, Ronger-Savlé S, Dalle S, Thomas L: Methylaminolaevulinate photodynamic therapy in patients with multiple basal cell carcinomas in the setting of Gorlin-Goltz syndrome or after radiotherapy. Dermatology; 2009;219(2):138-42
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  • [Title] Methylaminolaevulinate photodynamic therapy in patients with multiple basal cell carcinomas in the setting of Gorlin-Goltz syndrome or after radiotherapy.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is a therapeutic challenge due to the multiplicity of cutaneous tumours.
  • Photodynamic therapy (PDT) is increasingly used as an alternative treatment for superficial and in some countries nodular basal cell carcinomas (BCC).
  • OBJECTIVE: To study the safety and efficiency of PDT in NBCCS.
  • METHODS: We reviewed retrospectively the evolution of 62 lesions from patients with multiple BCC treated with PDT.
  • RESULTS: The initial response rate (85.4%, 53/62) and recurrence rate (7.5%) appeared comparable to literature values in NBCCS and to those reported in the treatment of sporadic BCC.
  • CONCLUSION: PDT is a suitable therapeutic option in the management of NBCCS patients but requires a strict and long follow-up.
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / radiotherapy. Neoplasm Recurrence, Local / pathology. Photochemotherapy / methods. Skin Neoplasms / drug therapy

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  • [Copyright] Copyright 2009 S. Karger AG, Basel.
  • (PMID = 19590166.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 88755TAZ87 / Aminolevulinic Acid
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23. Feito-Rodríguez M, Sendagorta-Cudós E, Moratinos-Martínez M, González-Beato MJ, de Lucas-Laguna R, Pizarro A: Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome. J Am Acad Dermatol; 2009 May;60(5):857-61
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome.
  • BACKGROUND: Gorlin-Goltz syndrome (GGS) is an autosomal-dominant disease characterized by the early onset of multiple basal cell carcinomas (BCCs), among other findings.
  • RESULTS: Some acrochordon-like lesions showed specific dermatoscopic criteria for BCC, including multiple blue-gray globules and arborizing telangiectasia.
  • Other polypoid lesions, especially the smaller ones, exhibited characteristics that suggested BCC, such as isolated blue-gray globules, small blue-gray ovoid nests, and fine elongated telangiectases.
  • CONCLUSION: Dermatoscopy may be a useful diagnostic tool to analyze acrochordon-like lesions in children and to facilitate early diagnosis and treatment of BCCs in patients with GGS.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 19233510.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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24. Ueda M, Kanematsu A, Nishiyama H, Yoshimura K, Watanabe K, Yorifuji T, Mikami Y, Kamoto T, Ogawa O: Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). J Pediatr Surg; 2010 Mar;45(3):E1-3
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  • [Title] Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • Ovarian thecoma-fibroma group tumors are closely associated with Gorlin syndrome or with abnormalities in PTCH, a candidate gene for the syndrome.
  • The occurrence of an extremely rare testicular thecoma in this case (the second in the literature) suggests that such an etiological association may also exist in the pathogenesis of testicular tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Testicular Neoplasms / diagnosis. Thecoma / diagnosis

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  • (PMID = 20223301.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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25. Loncaster JA, Allan E: Photodynamic therapy in the management of a patient with Gorlin syndrome (naevoid basal cell carcinoma syndrome). Photodiagnosis Photodyn Ther; 2006 Jun;3(2):134-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Photodynamic therapy in the management of a patient with Gorlin syndrome (naevoid basal cell carcinoma syndrome).
  • Gorlin syndrome (naevoid basal cell carcinoma syndrome) is a genetically linked disorder characterized by the development of multiple basal cell carcinomas (BCCs) throughout life.
  • Radiotherapy is contra-indicated because the mutated gene underlying the syndrome, 'PTCH', increases sensitivity to ionising radiation, so there is significant likelihood of inducing further tumours in and around the irradiated area.

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  • (PMID = 25049106.001).
  • [ISSN] 1572-1000
  • [Journal-full-title] Photodiagnosis and photodynamic therapy
  • [ISO-abbreviation] Photodiagnosis Photodyn Ther
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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26. Brellier F, Valin A, Chevallier-Lagente O, Gorry P, Avril MF, Magnaldo T: Ultraviolet responses of Gorlin syndrome primary skin cells. Br J Dermatol; 2008 Aug;159(2):445-52
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ultraviolet responses of Gorlin syndrome primary skin cells.
  • BACKGROUND: Gorlin syndrome, or naevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder associated with mutations in the PTCH1 gene, which encodes the receptor of SONIC HEDGEHOG.
  • In addition to developmental abnormalities, patients with NBCCS are prone to basal cell carcinoma (BCC), the most frequent type of nonmelanoma skin cancer in humans.
  • OBJECTIVES: As ultraviolet (UV) exposure plays a prominent role in the development of sporadic BCC, we aimed to determine whether primary NBCCS skin cells exhibit differential responses to UV exposure compared with wild-type (WT) skin cells.
  • METHODS: Primary fibroblast and keratinocyte strains were isolated from nonlesional skin biopsies of 10 patients with characteristic NBCCS traits.
  • After identification of PTCH1 mutations, capacities of NBCCS cells to repair UV-induced DNA lesions and to survive after UV irradiation, as well as p53 responses, were compared with those of WT skin cells.
  • DNA repair and cell survival analyses following UV irradiation revealed no obvious differences between responses of NBCCS and WT fibroblasts and keratinocytes.
  • However, p53 accumulation after UV irradiation was abnormally persistent in all NBCCS primary keratinocyte strains compared with WT keratinocytes.
  • CONCLUSIONS: Our observations that NBCCS cells harbour normal DNA repair and survival capacities following UV irradiation better explain that BCC proneness of patients with NBCCS does not solely concern body areas exposed to sunlight and suggest rather that it might be due to cell cycle alterations.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Skin / cytology. Skin Neoplasms / pathology. Ultraviolet Rays
  • [MeSH-minor] Cell Survival / radiation effects. Cells, Cultured. DNA Repair. DNA, Neoplasm / genetics. Dose-Response Relationship, Radiation. Fibroblasts / radiation effects. Humans. Keratinocytes / radiation effects. Mutation. Receptors, Cell Surface / genetics. Tumor Suppressor Protein p53 / metabolism

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  • (PMID = 18510667.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Protein p53; 0 / patched receptors
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27. Kos S, Feil B, Radü EW: [Gorlin-Goltz syndrome: manifestations in an elderly patient]. Praxis (Bern 1994); 2007 Oct 31;96(44):1736-8
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  • [Title] [Gorlin-Goltz syndrome: manifestations in an elderly patient].
  • [Transliterated title] Das Gorlin-Goltz-syndrom: Aspekte im Senium.
  • Gorlin-Goltz syndrome is a rare inherited genodermatosis with an autosomal dominant trait.
  • We hereby present a case of a 69 year old patient with known Gorlin-Goltz syndrome to emphasize the peculiar syndrome manifestations in the elderly.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Dyspnea / etiology. Image Processing, Computer-Assisted. Imaging, Three-Dimensional. Pulmonary Disease, Chronic Obstructive / radiography. Ribs / abnormalities. Scoliosis / radiography. Tomography, X-Ray Computed


28. Ahmed N, Salman M, Mansoor MA: Gorlin-goltz syndrome. J Coll Physicians Surg Pak; 2007 Sep;17(9):568-9

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  • [Title] Gorlin-goltz syndrome.
  • Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome.
  • Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system.
  • In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts.
  • This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years.

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  • (PMID = 17903410.001).
  • [ISSN] 1022-386X
  • [Journal-full-title] Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
  • [ISO-abbreviation] J Coll Physicians Surg Pak
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Pakistan
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29. Mitropoulos P, Norman R: Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments. Cutis; 2008 Jan;81(1):53-60
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments.
  • An updated review of management of nevoid basal cell carcinoma syndrome (NBCCS) is presented.
  • An ideal treatment of NBCCS does not exist, and surgical intervention has been the most commonly used treatment, as it provides excellent cure rates.
  • However, patients with NBCCS typically present with a large number of basal cell carcinomas (BCCs) with repeated occurrence throughout life.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Carcinoma, Basal Cell / therapy. Skin Neoplasms / therapy

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  • (PMID = 18306849.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Aminoquinolines; 0 / Antineoplastic Agents; 0 / Immunologic Factors; 0 / Retinoids; 9008-11-1 / Interferons; 99011-02-6 / imiquimod; U3P01618RT / Fluorouracil
  • [Number-of-references] 51
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30. Gu XM, Zhao HS, Sun LS, Li TJ: PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res; 2006 Sep;85(9):859-63
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  • [Title] PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.
  • Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome).
  • The PTCH gene has been reported to be associated with Gorlin syndrome.
  • We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations.
  • Of the 5 mutations identified, 2 were germ-line mutations (2619C>A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G>T) in 3 non-syndromic cysts.
  • This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16931872.001).
  • [ISSN] 0022-0345
  • [Journal-full-title] Journal of dental research
  • [ISO-abbreviation] J. Dent. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 68238-35-7 / Keratins
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31. Laimer M, Onder K, Schlager P, Lanschuetzer CM, Emberger M, Selhofer S, Hintner H, Bauer JW: Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. Br J Dermatol; 2008 Jul;159(1):222-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome.
  • Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.
  • We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense / genetics. Precancerous Conditions / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18476955.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / DNA, Neoplasm; 0 / Hedgehog Proteins; 0 / Membrane Proteins; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / patched receptors
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32. Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC: Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Jun;105(6):e10-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a wide range of clinical signs and symptoms.
  • The major criteria for the diagnosis are multiple cutaneous basal cell carcinomas, multiple odontogenic keratocysts of the jaw, palmar and plantar pits, and skeletal abnormalities.
  • Here, we report an unusual case of NBCCS in a 68-year-old woman with late onset of clinical signs and symptoms and with an associated ameloblastoma.
  • [MeSH-major] Ameloblastoma / etiology. Basal Cell Nevus Syndrome / complications. Jaw Neoplasms / complications. Maxillary Neoplasms / etiology
  • [MeSH-minor] Aged. Chromosomes, Human, Pair 9. Female. Humans. Receptors, Cell Surface / genetics

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  • (PMID = 18417377.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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33. Leonardi R, Matthews JB, Caltabiano R, Greco M, Lombardo C, Loreto C, Santarelli A, Lo Muzio L: MMP-13 expression in keratocyst odontogenic tumour associated with NBCCS and sporadic keratocysts. Oral Dis; 2010 Nov;16(8):795-800

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] MMP-13 expression in keratocyst odontogenic tumour associated with NBCCS and sporadic keratocysts.
  • OBJECTIVE: To investigate the matrix metalloproteinase (MMP)-13 expression in associated and non-nevoid basal cell carcinoma syndrome (NBCCS) Odontogenic Keratocysts (OCKs) in order to contribute to a better understanding of the differences in the growth pattern between them.
  • MATERIALS AND METHODS: Thirty-nine paraffin-embedded blocks of OCKs, 26 sporadic OCKs and 11 NBCCS-associated KCOTs were studied by immunohistochemistry to evaluate MMP-13 expression both in epithelial and stromal layers.
  • Moreover, syndromic cysts displayed a more intense and diffuse MMP-13 labelling of the stromal tissue.
  • Fisher's exact test showed a statistically significant greater prevalence of KCOTs-immunolabelled cysts with respect to sporadic OCKs.
  • CONCLUSIONS: Results from this study point out that the biological behaviour of these cysts could be related not only to the epithelial layer but also to stromal tissue in that... MMP-13 overexpression in stromal tissue of NBCCS-associated KCOTs could clarify the higher aggressiveness of these cysts.
  • [MeSH-major] Carcinoma, Basal Cell / enzymology. Matrix Metalloproteinase 13 / analysis. Odontogenic Cysts / enzymology. Odontogenic Tumors / enzymology

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20561220.001).
  • [ISSN] 1601-0825
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] EC 3.4.24.- / MMP13 protein, human; EC 3.4.24.- / Matrix Metalloproteinase 13
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34. Salmon B, Princ G, Wierzba CB: [Odontogenic keratocyst related to a Gorlin syndrome: a case report]. Arch Pediatr; 2008 Apr;15(4):406-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Odontogenic keratocyst related to a Gorlin syndrome: a case report].
  • [Transliterated title] Kératokystes odontogènes dans le cadre d'un syndrome de Gorlin: à propos d'un cas clinique.
  • We are reporting here, the case of a 9 years old boy with Gorlin syndrome diagnosis.
  • Current knowledge on this syndrome is reviewed.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Odontogenic Cysts / etiology
  • [MeSH-minor] Child. Female. Humans. Mandibular Diseases / radiography. Maxillary Diseases / radiography. Odontogenic Tumors / radiography

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  • (PMID = 18325751.001).
  • [ISSN] 0929-693X
  • [Journal-full-title] Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
  • [ISO-abbreviation] Arch Pediatr
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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35. Findley AB, Pride H: Unusual cystic scalp lesions in Gorlin syndrome: a brief report. Pediatr Dermatol; 2010 Mar-Apr;27(2):204-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unusual cystic scalp lesions in Gorlin syndrome: a brief report.
  • Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems.
  • We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele.
  • These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Branchioma / diagnosis. Head and Neck Neoplasms / diagnosis. Scalp. Skin Neoplasms / diagnosis


36. Smucker PS, Smith JL: Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. J Neurosurg; 2006 Oct;105(4 Suppl):315-20
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report.
  • The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.
  • The diagnosis of NBCCS was suspected based on the clinical examination, patient and family medical histories, and histopathological characteristics of the tumor.
  • The diagnosis of NBCCS was confirmed by DNA testing, which revealed a novel mutation in the PTCH gene.
  • This is the first report of an African-American child with MB diagnosed with NBCCS prior to radiotherapy.
  • Although only a small number of patients with MB have NBCCS, the diagnosis must be considered because radiotherapy in such patients can lead to the formation of BCCs and other intracranial neoplasms within the irradiated field.
  • This case emphasizes the importance of obtaining thorough family and patient medical histories and of carefully examining the patient and close relatives for signs of NBCCS to avoid the potentially devastating consequences of missing this diagnosis.
  • [MeSH-major] African Americans. Basal Cell Nevus Syndrome / diagnosis. Brain Neoplasms / diagnosis. Cerebellar Neoplasms / diagnosis. Cerebral Ventricle Neoplasms / diagnosis. Medulloblastoma / diagnosis. Neoplasms, Multiple Primary / diagnosis
  • [MeSH-minor] Child, Preschool. Cranial Fossa, Posterior. Humans. Magnetic Resonance Imaging. Male. Mutation. Receptors, Cell Surface / genetics


37. Valin A, Barnay-Verdier S, Robert T, Ripoche H, Brellier F, Chevallier-Lagente O, Avril MF, Magnaldo T: PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts. PLoS One; 2009;4(3):e4818
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.
  • Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS) causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human.
  • Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome.
  • In NBCCS patients, as in the general population, ultraviolet exposure is a major risk factor for BCC development.
  • However these patients also develop BCCs in sun-protected areas of the skin, suggesting the existence of other mechanisms for BCC predisposition in NBCCS patients.
  • As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients.
  • WT (n = 3) and NBCCS fibroblasts bearing either nonsense (n = 3) or missense (n = 3) PTCH1 mutations were cultured in dermal equivalents made of a collagen matrix and their transcriptomes were compared by whole genome microarray analyses.
  • Strikingly, NBCCS fibroblasts over-expressed mRNAs encoding pro-tumoral factors such as Matrix Metalloproteinases 1 and 3 and tenascin C.
  • They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts.
  • These data indicate that the PTCH1(+/-) genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Receptors, Cell Surface / genetics. Skin / pathology. Skin Neoplasms / pathology

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  • (PMID = 19287498.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cytokines; 0 / GREM1 protein, human; 0 / Intercellular Signaling Peptides and Proteins; 0 / RNA, Messenger; 0 / Receptors, Cell Surface; 0 / Wnt Proteins; 0 / beta Catenin; 0 / patched receptors; EC 3.4.24.- / Matrix Metalloproteinases
  • [Other-IDs] NLM/ PMC2654107
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38. Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G: Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. Eur J Gynaecol Oncol; 2006;27(5):519-22
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report.
  • Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a hereditary condition transmitted as an autosomal dominant trait with high penetrance and variable expressivity.
  • The syndrome is characterized by numerous manifestations: basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs) are the leading ones.
  • In this article a typical Gorlin syndrome case associated with basal cell carcinoma of the vulva is described.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Vulvar Neoplasms / complications

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  • (PMID = 17139991.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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39. Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K: Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature. Congenit Anom (Kyoto); 2009 Mar;49(1):8-14
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  • [Title] Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
  • Basal cell nevus syndrome (BCNS; Gorlin syndrome) is an autosomal dominant disorder, characterized by a predisposition to neoplasms and developmental abnormalities.
  • BCNS is caused by mutations in the human homolog of the Drosophila patched gene-1, PTCH1, which is mapped on chromosome 9q22.3.
  • Nonsense, frameshift, in-frame deletions, splice-site, and missense mutations have been found in the syndrome.
  • Haploinsufficiency of PTCH1, which is caused by interstitial deletion of 9q22.3, is also responsible for the syndrome.
  • We describe two unrelated patients with some typical features of BCNS associated with deletion of 9q21.33-q31.1 and determined the boundary of the deletion by fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones.
  • Although the size and breakpoints were different from those of previously reported cases, the clinical features are common to patients with 9q22 deletion associated with BCNS.
  • Delineation of the 9q22 deletions and further consideration of the genes responsible for the characteristic manifestations may provide insight into this newly recognized deletion syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9 / genetics
  • [MeSH-minor] Abnormalities, Multiple / genetics. Adult. Chromosome Mapping. Chromosomes, Artificial, Bacterial. Developmental Disabilities / genetics. Humans. In Situ Hybridization, Fluorescence. Infant, Newborn. Intellectual Disability / genetics. Karyotyping. Male. Syndrome. Tomography, X-Ray Computed


40. Prodinger PM, Sarbia M, Massmann J, Straka C, Meyer G, Steinlein OK: Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature. BMC Cancer; 2010;10:360
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  • [Title] Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature.
  • BACKGROUND AND CASE PRESENTATION: A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Cell Proliferation. Gastrointestinal Tract / pathology. Intestinal Neoplasms / pathology. Intestine, Small / pathology. Mesoderm / pathology
  • [MeSH-minor] Germ-Line Mutation / genetics. Humans. Male. Middle Aged. Prognosis. Receptors, Cell Surface / genetics. Review Literature as Topic

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  • (PMID = 20609239.001).
  • [ISSN] 1471-2407
  • [Journal-full-title] BMC cancer
  • [ISO-abbreviation] BMC Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2912266
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41. García de Marcos JA, Dean-Ferrer A, Arroyo Rodríguez S, Calderón-Polanco J, Alamillos Granados FJ, Poblet E: Basal cell nevus syndrome: clinical and genetic diagnosis. Oral Maxillofac Surg; 2009 Dec;13(4):225-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell nevus syndrome: clinical and genetic diagnosis.
  • INTRODUCTION: Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles.
  • The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene.
  • BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study.
  • METHODS: The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.
  • RESULTS: One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Jaw Neoplasms / genetics. Jaw Neoplasms / pathology
  • [MeSH-minor] Child. Chromosomes, Human, Pair 9. Codon, Nonsense. Female. Frameshift Mutation. Germ-Line Mutation. Humans. Male. Odontogenic Cysts / pathology. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics

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  • (PMID = 19795138.001).
  • [ISSN] 1865-1569
  • [Journal-full-title] Oral and maxillofacial surgery
  • [ISO-abbreviation] Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface
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42. Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S: A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet; 2008 May;45(5):303-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
  • BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is a pleiotropic, autosomal dominant disease.
  • Growing evidence suggests that the disorder may result from mutations in genes of the Sonic hedgehog (Shh) signalling pathway.
  • OBJECTIVE: To investigate the pathogenic gene in a Chinese Han family with NBCCS.
  • A GLI1 reporter gene and a cell growth curve were used to examine functional consequences of the detected mutant.
  • RESULTS: One novel mutation, a G-->A transition (2157G-->A) in exon 15 of the PTCH2 gene, was identified in this family with NBCCS by direct sequencing and digestion with the AvaI restriction enzyme.
  • In contrast to wild type PTCH2, PTCH2-R719Q could not inhibit cell proliferation.
  • CONCLUSION: PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation, Missense. Receptors, Cell Surface / genetics

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  • (PMID = 18285427.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / SHH protein, human; 0 / patched receptors
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43. Kohli M, Kohli M, Sharma N, Siddiqui SR, Tulsi SP: Gorlin-Goltz syndrome. Natl J Maxillofac Surg; 2010 Jan;1(1):50-2

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  • [Title] Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity.
  • The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

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  • (PMID = 22442551.001).
  • [ISSN] 0975-5950
  • [Journal-full-title] National journal of maxillofacial surgery
  • [ISO-abbreviation] Natl J Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3304191
  • [Keywords] NOTNLM ; Autosomal dominant / multiple organs / odontogenic keratocyst / spina bifida
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44. Jawa DS, Sircar K, Somani R, Grover N, Jaidka S, Singh S: Gorlin-Goltz syndrome. J Oral Maxillofac Pathol; 2009 Jul;13(2):89-92

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities.
  • Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias.
  • Gorlin-Goltz syndrome has rarely been reported from India.

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  • (PMID = 21887009.001).
  • [ISSN] 0973-029X
  • [Journal-full-title] Journal of oral and maxillofacial pathology : JOMFP
  • [ISO-abbreviation] J Oral Maxillofac Pathol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3162868
  • [Keywords] NOTNLM ; Diagnosis / Gorlin-Goltz syndrome / odontogenic keratocyst
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45. Sugaya S, Nakanishi H, Tanzawa H, Sugita K, Kita K, Suzuki N: Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells. Mutat Res; 2005 Oct 15;578(1-2):327-32
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  • [Title] Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells.
  • Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation.
  • Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells.
  • This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells.
  • In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A.
  • Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. DNA, Neoplasm / biosynthesis. Down-Regulation / radiation effects. Gene Expression Regulation, Neoplastic / radiation effects. Ubiquitins / metabolism. X-Rays
  • [MeSH-minor] Cell Line, Tumor. Ethidium / metabolism. Fibroblasts / metabolism. Fibroblasts / radiation effects. Flow Cytometry. Humans. Kinetics. Oligonucleotides, Antisense / pharmacology. RNA, Messenger / analysis. Reverse Transcriptase Polymerase Chain Reaction. Sequence Analysis, DNA. Transcription, Genetic

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  • (PMID = 16154602.001).
  • [ISSN] 0027-5107
  • [Journal-full-title] Mutation research
  • [ISO-abbreviation] Mutat. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Oligonucleotides, Antisense; 0 / RNA, Messenger; 0 / SUMO3 protein, human; 0 / Ubiquitins; EN464416SI / Ethidium
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46. Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M: Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. Am J Ophthalmol; 2007 Feb;143(2):346-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
  • PURPOSE: To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched (PTCH).
  • CONCLUSIONS: We present a case of bilateral ERM in GS with a molecular genetic diagnosis.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense. Epiretinal Membrane / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 17258529.001).
  • [ISSN] 0002-9394
  • [Journal-full-title] American journal of ophthalmology
  • [ISO-abbreviation] Am. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
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47. Geneviève D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V, Munnich A, Cormier-Daire V, Dommergues M, Lyonnet S, Mitanchez D: Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn; 2005 Nov;25(11):997-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome presenting as prenatal chylothorax in a girl.
  • Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000.
  • The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification.
  • More than 100 other clinical manifestations have also been described in the literature including ovarian fibroma, enlarged cerebral ventricles, and lymphatic as well as chylous mesenteric cysts.
  • Here, we report on a prenatal diagnosis of GS in a girl with a chylothorax, a previously unreported feature in GS.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Chylothorax / etiology. Prenatal Diagnosis
  • [MeSH-minor] Adult. Female. Fibroma / diagnosis. Heart Neoplasms / diagnosis. Humans. Infant, Newborn. Mutation. Pregnancy

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  • [Copyright] Copyright 2005 John Wiley & Sons, Ltd.
  • (PMID = 16231297.001).
  • [ISSN] 0197-3851
  • [Journal-full-title] Prenatal diagnosis
  • [ISO-abbreviation] Prenat. Diagn.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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48. Scully C, Langdon J, Evans J: Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome). Oral Dis; 2010 Jan;16(1):117-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome).
  • This document summarizes data about Gorlin-Goltz syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome. Eponyms

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  • (PMID = 20331807.001).
  • [ISSN] 1601-0825
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 8
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49. Nishigori C, Arima Y, Matsumura Y, Matsui M, Miyachi Y: Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells. Br J Dermatol; 2005 Dec;153 Suppl 2:52-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by tumorigenesis such as multiple basal cell carcinomas, odontogenic keratocysts and developmental abnormalities such as calcified dural folds and rib-anomalies.
  • OBJECTIVES: To Investigate the role of UV in development of BCCs in NBCCS, cellular sensitivity to killing by UVB and removal of UVB-induced oxidative DNA damage were examined using fibroblasts derived from patients with NBCCS under physiologically relevant doses of UVB exposure.
  • PATIENTS AND METHODS: Three patients with NBCCS, a 59-year-old male patient, an 18-year-old boy and a 13-year-old boy were examined by photobiological analysis.
  • RESULTS: All three cell strains derived from the patients with NBCCS were hypersensitive to killing by UVB (D10: 50-70% of normal) but not by UVC.
  • After UVB exposure, the production of 8-OHdG increased dose dependently up to 3200 J m-2 in both NBCCS cells and normal cells.
  • In normal cells, 8-OHdG after UVB exposure returned to its basal level during 24 h, whereas in NBCCS cells the amount of 8-OHdG after 800 J m-2 of UVB exposure did not return to its basal level even after 24 h.
  • The result indicates the removal of 8-OHdG could be impaired in NBCCS cells.
  • Ability in removal of thymine dimers of NBCCS cells was similar to that of normal cells.
  • CONCLUSIONS: Hypersensitivity to UVB can be one of the diagnostic tools of NBCCS for those whose clinical features have not yet completed.
  • Hypersensitivity to cell killing and the impairment of removal of 8-OHdG after UVB exposure may play some role in developing BCCs and other tumours in NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Deoxyguanosine / analogs & derivatives. Photosensitivity Disorders / metabolism. Skin Neoplasms / metabolism. Ultraviolet Rays / adverse effects
  • [MeSH-minor] Adolescent. Adult. Case-Control Studies. Cell Death. Cells, Cultured. Chromatography, High Pressure Liquid. Dimerization. Dose-Response Relationship, Radiation. Female. Humans. Male. Middle Aged. Thymine / metabolism

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  • (PMID = 16280022.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 88847-89-6 / 8-oxo-7-hydrodeoxyguanosine; G9481N71RO / Deoxyguanosine; QR26YLT7LT / Thymine
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50. Berment H, Genevois A, Dacher JN, Sabourin JC: [Multiple ovarian fibromas in a patient with Gorlin syndrome: US and MR imaging features with pathological correlation]. J Radiol; 2010 Sep;91(9 Pt 1):917-20
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  • [Title] [Multiple ovarian fibromas in a patient with Gorlin syndrome: US and MR imaging features with pathological correlation].
  • [Transliterated title] Fibromes ovariens multiples chez une patiente atteinte du syndrome de Gorlin.
  • We report a case of multiple ovarian fibromas in a 23 year old woman with Gorlin syndrome.
  • The fibrous component of the tumors were hypoechoic and attenuating on US with corresponding T2W hypointensity whereas myxoid components were hypoechoic with increased through transmission on US with corresponding T2W hyperintensity.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Endosonography. Fibroma / diagnosis. Image Processing, Computer-Assisted. Magnetic Resonance Imaging. Neoplasms, Multiple Primary / diagnosis. Ovarian Neoplasms / diagnosis. Pregnancy Complications, Neoplastic / diagnosis. Ultrasonography. Ultrasonography, Doppler, Color


51. Rai S, Gauba K: Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report. J Indian Soc Pedod Prev Dent; 2007 Jul-Sep;25(3):137-9
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  • [Title] Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.
  • Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system.
  • The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset.
  • These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them.
  • A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Mandibular Diseases / diagnosis. Odontogenic Cysts / diagnosis. Ribs / abnormalities
  • [MeSH-minor] Child. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Polydactyly / diagnosis. Radiography, Panoramic. Spinal Dysraphism / diagnosis. Toes / abnormalities. Tomography, X-Ray Computed

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  • (PMID = 17951931.001).
  • [ISSN] 0970-4388
  • [Journal-full-title] Journal of the Indian Society of Pedodontics and Preventive Dentistry
  • [ISO-abbreviation] J Indian Soc Pedod Prev Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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52. Hayes D Jr: Obstructive sleep apnea in a patient with basal cell nevus syndrome. J Ky Med Assoc; 2006 Jul;104(7):291-2
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  • [Title] Obstructive sleep apnea in a patient with basal cell nevus syndrome.
  • A 20-year-old male with basal cell nevus syndrome (also known as Gorlin-Goltz Syndrome) was evaluated for snoring, daytime hypersomnolence, and poorly controlled hypertension.
  • Nocturnal polysomnography confirmed obstructive sleep apnea syndrome with correction of symptoms with nasal bilevel positive pressure ventilation.
  • Assessment for sleep disordered breathing is imperative in ongoing care for patients with this disorder.
  • [MeSH-major] Basal Cell Nevus Syndrome. Sleep Apnea, Obstructive / diagnosis

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  • (PMID = 16886881.001).
  • [ISSN] 0023-0294
  • [Journal-full-title] The Journal of the Kentucky Medical Association
  • [ISO-abbreviation] J Ky Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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53. Safronova MM, Arantes M, Lima I, Domingues S, Almeida M, Moniz P: [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases]. Acta Med Port; 2010 Nov-Dec;23(6):1119-26
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  • [Title] [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].
  • [Transliterated title] Síndrome de Gorlin-Goltz: revisão das características neurorradiológicas e maxilofaciais ilustradas com dois casos.
  • INTRODUCTION: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations.
  • This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene.
  • The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome.
  • CASE REPORT: The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives.
  • In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed.
  • Histopathological exam revealed keratocysts.
  • None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity.
  • DISCUSSION/CONCLUSION: The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas.
  • Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life.
  • These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas.
  • Treatment should accomplish the complete resection of the tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Brain Neoplasms / radiography. Maxillary Neoplasms / radiography

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  • (PMID = 21627888.001).
  • [ISSN] 1646-0758
  • [Journal-full-title] Acta médica portuguesa
  • [ISO-abbreviation] Acta Med Port
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Portugal
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54. R Yang X, Pfeiffer RM, Goldstein AM: Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet; 2006 Apr;43(4):e16
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  • [Title] Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystem disorder with variable expression.
  • NBCCS patients have variable susceptibility to development of basal cell carcinoma (BCC).
  • Previous studies have shown that polymorphisms of some metabolic genes encoding the cytochrome p450 (CYP) and glutathione-S-transferase (GST) enzymes influenced the numbers of BCCs in sporadic BCC cases.
  • OBJECTIVE: To determine whether allelic variants of these genes contribute to the variation in numbers of BCCs observed in NBCCS families.
  • METHODS: Genotyping and analysis was carried out in 152 members (69 affected and 83 unaffected) of 13 families with NBCCS for seven polymorphisms in five metabolic genes including CYP1A1, CYP2D6, GSTM1, GSTP1, and GSTT1.
  • RESULTS: GSTP1 Val105 and GSTP1 Val114 alleles were significantly associated with fewer BCC numbers (odds ratio (OR)105 = 0.55 (95% confidence interval, 0.35 to 0.88); OR114 = 0.20 (0.05 to 0.88)).
  • In addition, fewer jaw cysts were observed in carriers of the three p450 polymorphisms (CYP1A1m1, CYP1A1m2, and CYP2D6*4) (OR(CYP1A1m1) = 0.27 (0.12 to 0.58); OR(CYP1A1m2) = 0.25 (0.08 to 0.78); OR(CYP2D6*4) = 0.33 (0.18 to 0.60)).
  • CONCLUSIONS: Genetic variants might contribute to the variation in numbers of BCCs and jaw cysts observed in NBCCS families.

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  • (PMID = 16582078.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Letter; Research Support, N.I.H., Intramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 1.14.14.1 / Cytochrome P-450 CYP1A1; EC 1.14.14.1 / Cytochrome P-450 CYP2D6; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / GSTP1 protein, human; EC 2.5.1.18 / Glutathione S-Transferase pi; EC 2.5.1.18 / Glutathione Transferase; EC 2.5.1.18 / glutathione S-transferase M1
  • [Other-IDs] NLM/ PMC2563218
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55. Ljubenović M, Ljubenović D, Binić I, Jovanović D, Stanojević M: Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Pannonica Adriat; 2007 Dec;16(4):166-9
MedlinePlus Health Information. consumer health - Skin Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell carcinomas, maxillary keratocysts, and musculoskeletal malformations.
  • Occasionally, it is associated with aggressive basal cell carcinomas and internal malignancies.
  • Early diagnosis and treatment are essential, as well as genetic counseling.
  • A patient with characteristic symptoms of nevoid basal cell carcinomas and a review of the literature are presented.
  • [MeSH-major] Basal Cell Nevus Syndrome. Carcinoma, Basal Cell. Facial Neoplasms. Skin Neoplasms

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  • (PMID = 18204747.001).
  • [ISSN] 1318-4458
  • [Journal-full-title] Acta dermatovenerologica Alpina, Pannonica, et Adriatica
  • [ISO-abbreviation] Acta Dermatovenerol Alp Pannonica Adriat
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Slovenia
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56. Debski T, Jethon J: [Gorlin-Goltz syndrome--a case report]. Pol Merkur Lekarski; 2010 Jun;28(168):466-9
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gorlin-Goltz syndrome--a case report].
  • [Transliterated title] Zespół Gorlina-Goltza--opis przypadku.
  • The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9.
  • The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies.
  • THE AIM OF THIS WORK: To present a case of GGS and explain modern standards of care for patients with this syndrome.
  • CASE REPORT: Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas.
  • Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome.
  • CONCLUSIONS: GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process.
  • Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis

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  • (PMID = 20642106.001).
  • [ISSN] 1426-9686
  • [Journal-full-title] Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
  • [ISO-abbreviation] Pol. Merkur. Lekarski
  • [Language] pol
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Poland
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57. Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS: Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J; 2009;2:9087

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident.
  • INTRODUCTION: Gorlin-Goltz syndrome is a rare hereditary disease.
  • Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene).
  • Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features.
  • Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis.
  • CASE PRESENTATION: We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.
  • CONCLUSION: Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.

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  • (PMID = 20062724.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2803884
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58. Nagy K, Kiss E, Erdei C, Oberna F, Fejérdy P, Márton K, Vajo Z: Complex care by multiple medical and dental specialists of a patient with aggressive Gorlin-Goltz syndrome. Postgrad Med J; 2008 Jun;84(992):330-2
MedlinePlus Health Information. consumer health - Skin Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Complex care by multiple medical and dental specialists of a patient with aggressive Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome is a genetically predisposed disease characterised by multiple basal cell carcinomas, odontogenic keratocysts and ectopic calcifications.
  • Because of the recurrence of a large basal cell carcinoma after multiple operations and a total dose telecobalt irradiation of 66 Gy, the patient's nose was ablated, with resection of the upper lip and part of the maxilla.
  • The patient tolerated the procedures well and is completely disease-free 12 months after the surgery.
  • Besides presenting a rare and complicated case of Gorlin-Goltz syndrome, the main purpose of this report is to show that, if different specialists in a dental-clinical team (maxillofacial surgeon, oncologist, radiation oncologist, prosthodontist and psychiatrist) combine their skills and expertise, successful management is possible even in a challenging complex case.
  • [MeSH-major] Carcinoma, Basal Cell / surgery. Neoplasm Recurrence, Local / surgery. Skin Neoplasms / surgery
  • [MeSH-minor] Adult. Humans. Male. Patient Care Team. Reconstructive Surgical Procedures. Syndrome

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  • (PMID = 18644927.001).
  • [ISSN] 1469-0756
  • [Journal-full-title] Postgraduate medical journal
  • [ISO-abbreviation] Postgrad Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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59. Tanabe R, Fujii K, Miyashita T, Uchikawa H, Endo M, Sugita K, Arai H, Kohno Y: [Clinical manifestations in 25 Japanese patients with Gorlin syndrome]. No To Hattatsu; 2009 Jul;41(4):253-7
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Clinical manifestations in 25 Japanese patients with Gorlin syndrome].
  • We investigated the clinical manifestations of 25 Japanese patients with Gorlin syndrome.
  • We revealed the frequencies of major five symptoms in Japanese Gorlin syndrome patients, i.e., basal cell carcinomas (BCCs) (20%), jaw cysts (80%), palmar and plantar pits (64%), calcification of the falx cerebri (64%), and rib abnormalities (44%).
  • Compared with the previous studies in the United States, the United Kingdom, and Australia, Japanese Gorlin syndrome patients showed a significantly lower rate of BCCs, and no medulloblastomas in this study.
  • We conclude that clinical manifestations other than major symptoms are quite variable, and racial differences may influence the occurrence of BCCs in Gorlin syndrome patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis

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  • (PMID = 19618879.001).
  • [ISSN] 0029-0831
  • [Journal-full-title] No to hattatsu. Brain and development
  • [ISO-abbreviation] No To Hattatsu
  • [Language] jpn
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] Japan
  • [Number-of-references] 16
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60. Wang W, Wang J, Li J, Mao L, Guo F, Zhang B: New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome. Br J Oral Maxillofac Surg; 2009 Jul;47(5):366-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
  • Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours.
  • Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS.
  • Our findings suggest that the 3146A-->T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adenine. Chromosomes, Human, Pair 9 / genetics. Codon, Nonsense / genetics. Cytosine. Exons / genetics. Humans. Jaw Diseases / genetics. Odontogenic Cysts / genetics. Pedigree. Protein Biosynthesis / genetics. Protein Conformation. Thymine. Tumor Suppressor Proteins / genetics

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  • (PMID = 19008023.001).
  • [ISSN] 1532-1940
  • [Journal-full-title] The British journal of oral & maxillofacial surgery
  • [ISO-abbreviation] Br J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Proteins; 0 / patched receptors; 8J337D1HZY / Cytosine; JAC85A2161 / Adenine; QR26YLT7LT / Thymine
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61. Schwarz-Furlan S, Brase C, Stockmann P, Furlan I, Hartmann A: [Hereditary head and neck tumors]. Pathologe; 2010 Oct;31(6):477-84
MedlinePlus Health Information. consumer health - Head and Neck Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Hereditary head and neck tumors].
  • Hereditary paraganglioma, Gorlin-Goltz syndrome and Fanconi anemia are among the rare hereditary tumor syndromes of the head and neck.
  • Patients with hereditary paraganglioma often develop multiple tumors of the glomus caroticum and glomus jugulotympanicum.
  • The corresponding genetic defects of the mitochondrial succinate dehydrogenase complex induce autonomous tumor cell growth.
  • In patients with Gorlin-Goltz syndrome basal cell carcinomas and keratocystic odontogenic tumors usually occur much earlier than in patients with sporadic tumors.
  • The associated germline mutations are located in the patched gene which is a modulator of the cell cycle.
  • Fanconi anemia represents a chromosomal instability syndrome which is characterized by early onset of pancytopenia, i.e. bone marrow failure and subsequent development of acute myeloid leukemia and/or squamous cell carcinomas, especially of the head and neck.
  • [MeSH-minor] Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / genetics. Carcinoma, Basal Cell / surgery. Carcinoma, Squamous Cell / genetics. Carcinoma, Squamous Cell / pathology. DNA Repair. DNA, Neoplasm / genetics. Eye Enucleation. Fanconi Anemia / genetics. Fanconi Anemia / pathology. Genomic Instability. Humans. Leukemia, Myeloid, Acute / genetics. Leukemia, Myeloid, Acute / pathology. Paraganglioma / genetics. Paraganglioma / pathology. Radiography

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  • (PMID = 20844882.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA, Neoplasm
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62. Freier K, Pungs S, Flechtenmacher C, Hofele C: [Activation of sonic hedgehog signaling in keratocystic odontogenic tumors]. HNO; 2009 Apr;57(4):345-50

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Activation of sonic hedgehog signaling in keratocystic odontogenic tumors].
  • BACKGROUND: Keratocystic odontogenic tumors are benign neoplasms of the viscerocranium that occur sporadically as well as in association with Gorlin-Goltz syndrome.
  • Multiple basal cell carcinomas of the skin are another typical feature of Gorlin-Goltz syndrome.
  • Aberrant activation of sonic hedgehog signaling has been reported for sporadic and hereditary basal cell carcinoma caused by specific genetic mutations, but for keratocystic odontogenic tumors, the role of aberrant sonic hedgehog signaling has not yet been evaluated in detail.
  • MATERIALS AND METHODS: In the present study, 131 keratocystic odontogenic tumors were analyzed by immunohistochemistry for the expression of sonic hedgehog signaling proteins SHH, PTCH1, SMO, GLI1, and NMYC on tissue microarray sections.
  • RESULTS: High expression of the analyzed proteins-between 67.3% (PTCH1) and 92.9% (SHH)-was found in the epithelial compartment of the keratocystic odontogenic tumors analyzed.
  • In the stromal compartment of the tumors, high expression of the target proteins was found significantly less frequently (all p-values <0.001).
  • CONCLUSION: Aberrant sonic hedgehog signaling is critically involved in the molecular pathogenesis of keratocystic odontogenic tumors.
  • This finding underlines the neoplastic character of this intraosseous lesion.
  • Because of high recurrence rates after local excision, more radical surgical approaches are recommended for treating keratocystic odontogenic tumors.
  • [MeSH-major] Hedgehog Proteins / metabolism. Jaw Neoplasms / metabolism. Odontogenic Cysts / metabolism. Odontogenic Tumors / metabolism. Signal Transduction

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  • (PMID = 19082818.001).
  • [ISSN] 1433-0458
  • [Journal-full-title] HNO
  • [ISO-abbreviation] HNO
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Hedgehog Proteins
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63. Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y: [PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome]. No To Hattatsu; 2009 Jul;41(4):259-63
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].
  • Gorlin syndrome is an autosomal dominant disorder characterized by congenital anomalies and tumorigenesis.
  • The gene responsible for Gorlin syndrome is PTCH1, a human homologue of the Drosophila segment polarity gene, patched.
  • We analysed the PTCH1 gene in 25 patients in 22 families with Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19618880.001).
  • [ISSN] 0029-0831
  • [Journal-full-title] No to hattatsu. Brain and development
  • [ISO-abbreviation] No To Hattatsu
  • [Language] jpn
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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64. Patil K, Mahima VG, Gupta B: Gorlin syndrome: a case report. J Indian Soc Pedod Prev Dent; 2005 Oct-Dec;23(4):198-203
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome: a case report.
  • Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity.
  • It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies.
  • However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc.
  • Diagnosis of the syndrome in childhood is basically through oral abnormalities.
  • A case of Gorlin syndrome has been reported here, with review of literature.
  • [MeSH-major] Anodontia / complications. Basal Cell Nevus Syndrome / diagnosis. Jaw Cysts / complications. Tooth Abnormalities / complications
  • [MeSH-minor] Abnormalities, Multiple. Adolescent. Female. Humans

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  • (PMID = 16327143.001).
  • [ISSN] 1998-3905
  • [Journal-full-title] Journal of the Indian Society of Pedodontics and Preventive Dentistry
  • [ISO-abbreviation] J Indian Soc Pedod Prev Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] India
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65. Saluja JS, Ramakrishnan MJ, Vinit GB, Jaiswara C: Multiple dentigerous cysts in a nonsyndromic minor patient: Report of an unusual case. Natl J Maxillofac Surg; 2010 Jul;1(2):168-72

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple dentigerous cysts in a nonsyndromic minor patient: Report of an unusual case.
  • A dentigerous cyst is an odontogenic cyst, thought to be of developmental origin.
  • Most dentigerous cysts are solitary.
  • Multiple/bilateral cysts are usually found in association with a number of syndromes including cleidocranial dysplasia, Maroteaux-Lamy syndrome and Gorlin--Goltz syndrome (multiple OKCs).
  • In the absence of these syndromes, the occurrence of multiple dentigerous cysts is rare.
  • Here, we report the unusual occurrence of non-syndromic multiple dentigerous cysts.

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  • (PMID = 22442592.001).
  • [ISSN] 2229-3418
  • [Journal-full-title] National journal of maxillofacial surgery
  • [ISO-abbreviation] Natl J Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3304203
  • [Keywords] NOTNLM ; Dentigerous cyst / enucleation / unerupted teeth
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66. Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM: Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. Am J Med Genet A; 2006 Dec 1;140(23):2625-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
  • We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene.
  • We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Hair / growth & development. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 16906569.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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67. Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A, Aguirre Urizar JM: Gorlin-Goltz syndrome: clinicopathologic aspects. Med Oral Patol Oral Cir Bucal; 2008 Jun;13(6):E338-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-Goltz syndrome: clinicopathologic aspects.
  • Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the "Patched" tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found.
  • This syndrome shows a high penetrance and variable expressiveness.
  • It is about a multisystemic process that is characterised by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri.
  • The latter include numerous skeletical, dermatology related and neurological anomalies among others.
  • In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasias.
  • Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristic in order to make a diagnosis, an early preventive treatment and establish right genetic advice.
  • In this work the main clinicopathologic and the therapeutic aspects related to the syndrome under consideration have been revised and updated.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Mouth Neoplasms / diagnosis

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  • (PMID = 18521051.001).
  • [ISSN] 1698-6946
  • [Journal-full-title] Medicina oral, patología oral y cirugía bucal
  • [ISO-abbreviation] Med Oral Patol Oral Cir Bucal
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Spain
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68. Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA: Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation. Br J Ophthalmol; 2005 Aug;89(8):988-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
  • RESULTS: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Cerebellar Neoplasms / genetics. Medulloblastoma / genetics. Microphthalmos / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16024850.001).
  • [ISSN] 0007-1161
  • [Journal-full-title] The British journal of ophthalmology
  • [ISO-abbreviation] Br J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1772759
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69. Díaz-Fernández JM, Infante-Cossío P, Belmonte-Caro R, Ruiz-Laza L, García-Perla-García A, Gutiérrez-Pérez JL: Basal cell nevus syndrome. Presentation of six cases and literature review. Med Oral Patol Oral Cir Bucal; 2005;10 Suppl 1:E57-66
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell nevus syndrome. Presentation of six cases and literature review.
  • Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc.
  • On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling.
  • Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients.
  • In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Facial Neoplasms / etiology. Facial Neoplasms / pathology. Facial Neoplasms / surgery. Female. Humans. Jaw Cysts / etiology. Jaw Cysts / pathology. Jaw Cysts / surgery. Keratins. Male. Skin Neoplasms / etiology. Skin Neoplasms / pathology. Skin Neoplasms / surgery

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  • (PMID = 15800468.001).
  • [ISSN] 1698-6946
  • [Journal-full-title] Medicina oral, patología oral y cirugía bucal
  • [ISO-abbreviation] Med Oral Patol Oral Cir Bucal
  • [Language] eng; spa
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Spain
  • [Chemical-registry-number] 68238-35-7 / Keratins
  • [Number-of-references] 22
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70. Oostra RJ, Maas M: Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome? Am J Med Genet A; 2006 Oct 1;140(19):2135-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
  • A hitherto unknown combination of multiple bifid ribs, as seen in Gorlin syndrome (GS), interpedicular fusion and apparent malsegmentation of vertebral laminae at various upper thoracic levels was found in the skeleton of a newborn infant.
  • This specific combination of anomalies is also seen in the mouse open brain (opb) mutant.
  • Since the genes involved in GS (Patched2) and opb (rab23) both play an essential role in the hedgehog signaling pathway, it is likely that the cause of the anomalies presented here is to be sought in impaired functioning of this pathway.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Ribs / abnormalities. Spine / abnormalities
  • [MeSH-minor] Abnormalities, Multiple / genetics. Animals. Diagnosis, Differential. Humans. Infant, Newborn. Mice. Mutation. Phenotype

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  • (PMID = 16955411.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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71. Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M: Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Clin Pract Oncol; 2006 Oct;3(10):575-80
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  • [Title] Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.
  • DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.
  • MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Kidney Neoplasms / surgery. Rhabdomyosarcoma / surgery. Wilms Tumor / surgery
  • [MeSH-minor] Bone Cysts / complications. Child, Preschool. Female. Humans. Macroglossia / etiology. Mandible. Receptors, Cell Surface / genetics

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  • (PMID = 17019435.001).
  • [ISSN] 1743-4262
  • [Journal-full-title] Nature clinical practice. Oncology
  • [ISO-abbreviation] Nat Clin Pract Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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72. Wallin JL, Tanna N, Misra S, Puri PK, Sadeghi N: Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. Am J Otolaryngol; 2007 Sep-Oct;28(5):360-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is associated with multiple basal cell carcinomas, odontogenic cysts, craniofacial anomalies, and childhood medulloblastomas.
  • METHODS: We present a 19-year-old man with NBCCS who presented with a sinonasal carcinoma 17 years after receiving craniospinal irradiation for treatment of medulloblastoma.
  • RESULTS: To our knowledge, this is the first report of a sinonasal tumor after irradiation in a patient with NBCCS.
  • CONCLUSIONS: With this case, the authors examine the genotype of NBCCS patients and their propensity for radiation-induced tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Neoplasms, Radiation-Induced / surgery. Paranasal Sinus Neoplasms / etiology. Paranasal Sinus Neoplasms / surgery. Radiotherapy / adverse effects

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  • (PMID = 17826543.001).
  • [ISSN] 0196-0709
  • [Journal-full-title] American journal of otolaryngology
  • [ISO-abbreviation] Am J Otolaryngol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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73. Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A; 2009 Jul;149A(7):1539-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of a SUFU germline mutation in a family with Gorlin syndrome.
  • Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Repressor Proteins / genetics
  • [MeSH-minor] Adult. Base Sequence. Child, Preschool. Family. Female. Humans. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics


74. Dalati T, Zhou H: Gorlin syndrome with ameloblastoma: a case report and review of literature. Cancer Invest; 2008 Dec;26(10):975-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome with ameloblastoma: a case report and review of literature.
  • A 32-year-old female patient with a history of surgical treatment of cutaneous basal cell carcinomas and recurrent keratocystic odontogenic tumours presented with a painless swelling in the vestibular area of the maxillary premolar region.
  • The lesion was excised, and pathological examination established the diagnosis of ameloblastoma.
  • A review of literature about Gorlin syndrome with ameloblastoma is presented.
  • [MeSH-major] Ameloblastoma / complications. Basal Cell Nevus Syndrome / complications. Jaw Neoplasms / complications. Maxillary Neoplasms / complications

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  • (PMID = 19093254.001).
  • [ISSN] 1532-4192
  • [Journal-full-title] Cancer investigation
  • [ISO-abbreviation] Cancer Invest.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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75. Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S: Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR. Dermatology; 2009;219(2):111-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
  • BACKGROUND: Gorlin syndrome is a rare autosomal-dominant disorder characterized by a wide range of developmental abnormalities and various tumors.
  • The syndrome is caused by mutations in PTCH1, a tumor suppressor gene located at 9q22.32.
  • We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in PTCH1, but with a large deletion of the 9q22 region that has rarely been described.
  • CONCLUSION: We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9. Genetic Predisposition to Disease


76. Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB: Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev; 2005 May;31(3):351-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
  • BACKGROUND: Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations.
  • METHODS: We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype.
  • RESULTS: In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease.
  • Subsequent molecular testing confirmed the diagnosis.
  • In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS.
  • CONCLUSIONS: Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis

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  • (PMID = 15840155.001).
  • [ISSN] 0305-1862
  • [Journal-full-title] Child: care, health and development
  • [ISO-abbreviation] Child Care Health Dev
  • [Language] eng
  • [Grant] Italy / Telethon / / GTF04003
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense
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77. Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W: Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3--&gt;q31.3) associated with Gorlin syndrome. Prenat Diagn; 2006 Aug;26(8):725-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
  • OBJECTIVES: To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
  • METHODS: Amniocentesis was performed at 18 weeks' gestation on a 27-year-old woman at a community hospital because of a high Down syndrome risk of 1/178, a low maternal serum alpha-fetoprotein (MSAFP) level of 0.66 multiples of the median (MoM), and a high maternal serum human chorionic gonadotrophin (MShCG) level of 3.13 MoM.
  • Postnatally, the infant manifested characteristic features of Gorlin syndrome.
  • The karyotype of the proband was 46,XY,del(9)(q22.3q31.3)de novo.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Banding. Chromosome Deletion. Chromosomes, Human, Pair 9 / genetics
  • [MeSH-minor] Adult. Amniocentesis. Chorionic Gonadotropin / blood. Female. Genetic Markers. Humans. In Situ Hybridization, Fluorescence. Infant, Newborn. Male. Pregnancy. Receptors, Cell Surface / deficiency. Receptors, Cell Surface / genetics. alpha-Fetoproteins / analysis

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  • (PMID = 16927391.001).
  • [ISSN] 0197-3851
  • [Journal-full-title] Prenatal diagnosis
  • [ISO-abbreviation] Prenat. Diagn.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chorionic Gonadotropin; 0 / Genetic Markers; 0 / Receptors, Cell Surface; 0 / alpha-Fetoproteins; 0 / patched receptors
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78. Xu LL, Li TJ: [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]. Beijing Da Xue Xue Bao; 2008 Feb 18;40(1):15-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].
  • OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs.
  • CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18278130.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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79. Caresana G, Giardini R: Dermoscopy-guided surgery in basal cell carcinoma. J Eur Acad Dermatol Venereol; 2010 Dec;24(12):1395-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Dermoscopy-guided surgery in basal cell carcinoma.
  • BACKGROUND: In basal cell carcinoma (BCC), excision margins between 3 and 10 mm, according to site, size, borders, previous treatment and histology, can allow for radical excision in at least 95% of cases.
  • Morpheaform BCC, deeply recurrent BCC, BCC in Gorlin-Goltz syndrome, BCC located in sites not accessible through dermoscopy and superficial multifocal BCC were excluded.
  • All cases of excised BCC were submitted to a uniform method of histological examination of the whole specimen with serial parallel sections at 2-mm intervals.
  • [MeSH-major] Carcinoma, Basal Cell / surgery. Dermoscopy. Skin Neoplasms / surgery

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  • [Copyright] © 2010 The Authors. Journal compilation © 2010 European Academy of Dermatology and Venereology.
  • (PMID = 20384678.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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80. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, Nishigori C, Iizuka T: Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res; 2005 Jan;296(7):303-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
  • We identified seven novel germline mutations of the PTCH gene in eight unrelated Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS).
  • In order to ensure genetic diagnosis, all 23 coding exons of the PTCH gene were amplified from genomic DNA by polymerase chain reaction (PCR) and sequenced.
  • Mutations were found in all eight patients with NBCCS.
  • No phenotype-genotype relationships were found in the Japanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15565302.001).
  • [ISSN] 0340-3696
  • [Journal-full-title] Archives of dermatological research
  • [ISO-abbreviation] Arch. Dermatol. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
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81. Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J: Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. Eur J Med Genet; 2008 Sep-Oct;51(5):472-8
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
  • We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations.
  • MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.
  • This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Corpus Callosum / pathology. Craniofacial Abnormalities / diagnosis. Craniofacial Abnormalities / genetics. Exons. Family Health. Female. Gene Deletion. Humans. Mutation. Patched Receptors. Patched-1 Receptor. Pedigree. Pregnancy. Prenatal Diagnosis. Receptor, Melanocortin, Type 1 / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18539553.001).
  • [ISSN] 1769-7212
  • [Journal-full-title] European journal of medical genetics
  • [ISO-abbreviation] Eur J Med Genet
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface
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82. Marsh A, Wicking C, Wainwright B, Chenevix-Trench G: DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat; 2005 Sep;26(3):283
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx.
  • Mutations in the PTCH gene are responsible for NBCCS but most studies have found mutations in less than half of the cases tested.
  • We used denaturing high performance liquid chromatography (DHPLC) to screen for PTCH mutations in 28 NBCCS cases, most of whom had been previously evaluated by single stranded conformation polymorphism analysis but found to be negative.
  • The mutation frequency was similar in inherited and de novo cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromatography, High Pressure Liquid / methods. DNA Mutational Analysis / methods. Mutation, Missense. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics. Sterols / chemistry

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  • (PMID = 16088933.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / Sterols; 0 / patched receptors
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83. Pan S, Dong Q, Sun LS, Li TJ: Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clin Cancer Res; 2010 Jan 15;16(2):442-50
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
  • PURPOSE: PTCH1 has been identified as the gene responsible for nevoid basal cell carcinoma syndrome (NBCCS).
  • Keratocystic odontogenic tumors (KCOT) are aggressive jaw lesions that may occur in isolation or in association with NBCCS.
  • The aim of this study was to investigate the genetic and/or epigenetic mechanisms of inactivation of the PTCH1 gene in patients with NBCCS and related sporadic KCOTs.
  • EXPERIMENTAL DESIGN: Loss of heterozygosity was analyzed in 44 patients (15 NBCCS-related and 29 sporadic KCOTs), all of whom were previously analyzed for PTCH1 mutations.
  • Allelic location was established in tumors carrying two coincident mutations.
  • The distribution of two-hit, one-hit, and non-hit cases was significantly different between syndrome and nonsyndrome patients (P < 0.02).
  • CONCLUSIONS: This study indicates that PTCH1 gene alternation may play a significant role in the pathogenesis of NBCCS and the related sporadic tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gingival Neoplasms / genetics. Models, Genetic. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Alleles. Child. Female. Gene Expression Regulation, Neoplastic. Gene Silencing / physiology. Genetic Predisposition to Disease. Humans. Loss of Heterozygosity. Male. Middle Aged. Mutation / physiology. Odontogenic Tumors / genetics. Odontogenic Tumors / pathology. Young Adult

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  • (PMID = 20068110.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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84. Pribila JT, Ronan SM, Trobe JD: Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol; 2008 Mar;28(1):41-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome.
  • A 27-year-old man with nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) who had undergone craniospinal irradiation for a childhood brain stem medulloblastoma complained of progressive binocular visual loss.
  • Brain MRI demonstrated mass effect from multiple large meningiomas.
  • This is the sixth reported patient with NBCCS, medulloblastoma, and craniospinal radiation who has developed intracranial meningioma, further documenting the fact that such patients have a relatively high likelihood of developing meningiomas, especially multiple meningiomas.
  • Because patients with NBCCS are often mentally impaired and because papilledema can progress silently before causing irreversible visual loss, periodic ophthalmologic examination is advisable after craniospinal radiation.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Brain Neoplasms / complications. Meningioma / complications. Neoplasms, Multiple Primary / complications. Papilledema / etiology. Radiotherapy / adverse effects. Vision, Low / etiology
  • [MeSH-minor] Adult. Disease Progression. Humans. Intracranial Hypertension / etiology. Intracranial Hypertension / physiopathology. Magnetic Resonance Imaging. Male. Medulloblastoma / radiotherapy. Meninges / pathology. Neurosurgical Procedures. Optic Disk / pathology. Optic Disk / physiopathology. Retina / pathology. Retina / physiopathology. Treatment Outcome


85. Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z: Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol; 2006;27(4):175-80
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
  • BACKGROUND/AIMS: Odontogenic keratocysts (OKC) are aggressive lesions in the jaws, which can occur as isolated cases or in association with nevoid basal cell carcinoma syndrome (NBCCS).
  • Mutations on PTCH gene have been identified in patients with NBCCS.
  • This study aims to investigate germline mutations of PTCH in families with OKC and NBCCS.
  • METHODS: Three Chinese families with OKC and NBCCS were enrolled in the study.
  • The diagnosis was based on examination and medical history.
  • RESULTS: One family with isolated OKC (family 1) and the other two families with NBCCS were diagnosed.
  • Three novel germline mutations in PTCH were identified, including a missense mutation (p.S1089 > P) in family 1, a nonsense mutation (p.Q160X) in family 2 and a de novo mutation (c.768_777delGACAAACTTC) in family 3.
  • The results suggest that germline mutations on PTCH can cause isolated OKC, and that the PTCH gene responsible for NBCCS plays an important role in the formation of OKCs even when they are not syndrome-related.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Odontogenic Cyst, Calcifying / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2006 S. Karger AG, Basel.
  • (PMID = 16675912.001).
  • [ISSN] 1010-4283
  • [Journal-full-title] Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
  • [ISO-abbreviation] Tumour Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 9007-49-2 / DNA
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86. Motegi S, Nagai Y, Tamura A, Ishikawa O: Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature. Dermatology; 2008;216(2):159-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature.
  • We report a 72-year-old man with nevoid basal cell carcinoma syndrome (NBCCS) who presented with 25 skin cysts on his trunk and extremities.
  • Fourteen of 25 skin cysts (56%) were observed on his hands.
  • Histological examination demonstrated that most of the excised cysts had an epithelial wall with typical epidermal keratinization.
  • However, 4 skin cysts (4/16; 25%) showed a corrugated or festooned inner surface of wall without a granular cell layer, which resembled an odontogenic keratocyst, a characteristic feature of skin cysts in NBCCS.
  • A review of the literature suggested that acral localization of skin cysts is a distinctive feature of NBCCS.
  • In addition, the histological findings of skin cysts resembling an odontogenic keratocyst might be a hallmark of NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Cysts / complications. Skin Neoplasms / complications
  • [MeSH-minor] Aged. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Skin Diseases / complications. Skin Diseases / diagnosis


87. Feiden S, Sartorius E, Feiden W: [The role of diagnostic neuropathology in familial tumour syndromes]. Pathologe; 2010 Oct;31(6):464-70

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [The role of diagnostic neuropathology in familial tumour syndromes].
  • Inherited cancer syndromes often involve the central and peripheral nervous system.
  • For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain.
  • Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age.
  • This short review discusses some of the diagnostic aspects in this field relating to neurofibromatosis type 1 and 2 (NF1, NF2), as well as the two rare tumors MBEN in Gorlin-Goltz syndrome and AT/RT in particular.
  • [MeSH-minor] Central Nervous System Neoplasms / genetics. Central Nervous System Neoplasms / pathology. Chromosome Mapping. Chromosomes, Human, Pair 16. Chromosomes, Human, Pair 17. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 9. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Peripheral Nervous System Neoplasms / genetics. Peripheral Nervous System Neoplasms / pathology. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology

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  • [Cites] Genet Med. 2010 Jan;12(1):1-11 [20027112.001]
  • [Cites] Genet Med. 2009 Sep;11(9):599-610 [19652604.001]
  • [Cites] Clin Cancer Res. 2009 Apr 1;15(7):2463-71 [19276247.001]
  • [Cites] Acta Neuropathol. 2007 Aug;114(2):97-109 [17618441.001]
  • [Cites] J Neurosurg. 1999 Dec;91(6):971-7 [10584843.001]
  • (PMID = 20848106.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
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88. Ramaglia L, Morgese F, Pighetti M, Saviano R: Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 Aug;102(2):217-9
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review.
  • Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri.
  • More than 100 minor criteria have been described, but 2 major and 1 minor criteria or 1 major and 3 minor criteria are necessary for the diagnosis.
  • In this report we present an 8-year-old girl affected by NBCCS showing a uterus bicornis, a hitherto unreported association.
  • However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Child. Chromosomes, Human, Pair 9. Craniofacial Abnormalities / pathology. Female. Humans. Mandibular Diseases / pathology. Mullerian Ducts / abnormalities. Odontogenic Cysts / pathology. Uterus / abnormalities

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  • (PMID = 16876065.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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89. Mitchell G, Farndon PA, Brayden P, Murday VA, Eeles RA: Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome. Clin Oncol (R Coll Radiol); 2005 Dec;17(8):650-4
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome.
  • This report outlines a case of Gorlin syndrome, the diagnosis of which was delayed for many years, and raises a number of important issues.
  • These are the spectrum of late radiotherapy effects, particularly after treatment for benign disease, and the importance of considering the possibility of the presence of a genetic syndrome predisposing to cancer in all individuals before starting any treatment.
  • As our knowledge of genetic syndromes expands, this will become increasingly important.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Predisposition to Disease

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  • (PMID = 16372493.001).
  • [ISSN] 0936-6555
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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90. Figueroa A, Correnti M, Avila M, Andea A, DeVilliers P, Rivera H: Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type? Otolaryngol Head Neck Surg; 2010 Feb;142(2):179-83
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type?
  • OBJECTIVE: The objective of this study was to analyze the expression of proliferative markers and p53 in keratocystic odontogenic tumor (KCOT) sporadic type and KCOT associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • SUBJECTS AND METHODS: Twelve cases corresponded to sporadic KCOT, and seven cases were associated with NBCCS.
  • Immunohistochemical analysis for p53, proliferating cell nuclear antigen (PCNA), and Ki-67 was performed in all 19 cases.
  • RESULTS: Of the seven cases associated with NBCCS, six (86%) were positive for PCNA.
  • Five of 12 (42%) cases of sporadic KCOT were positive for p53, and only one (14%) case associated with NBCCS was positive for p53.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Basal Cell Nevus Syndrome / pathology. Biomarkers, Tumor / analysis. Odontogenic Cysts / metabolism. Odontogenic Cysts / pathology
  • [MeSH-minor] Cross-Sectional Studies. Humans. Immunohistochemistry. Ki-67 Antigen / analysis. Neoplasm Invasiveness. Proliferating Cell Nuclear Antigen / analysis. Tumor Suppressor Protein p53 / analysis

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  • [Copyright] Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.
  • (PMID = 20115971.001).
  • [ISSN] 1097-6817
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Ki-67 Antigen; 0 / Proliferating Cell Nuclear Antigen; 0 / Tumor Suppressor Protein p53
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91. van der Geer S, Ostertag JU, Krekels GA: Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. J Eur Acad Dermatol Venereol; 2009 Mar;23(3):308-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple basal cell carcinomas (BCCs).
  • There is no evidence based advice how to treat a NBCCS patient.
  • OBJECTIVE: To give a review of the literature about the possible treatment modalities for the multiple BCCs in NBCCS patients.
  • RESULTS: Literature consists mainly of case reports; no evidence based advice how to treat a NBCCS patient exists.
  • Multiple treatments are available (surgical and non-surgical), and a lot of them can be combined.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / therapy

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  • (PMID = 19207641.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Aminoquinolines; 99011-02-6 / imiquimod
  • [Number-of-references] 51
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92. Lam EW, Lee L, Perschbacher SE, Pharoah MJ: The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome. Dentomaxillofac Radiol; 2009 Oct;38(7):475-9
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome.
  • OBJECTIVES: This retrospective study reviews the occurrence of keratocystic odontogenic tumours (KOTs) in nevoid basal cell carcinoma syndrome (NBCCS) patients seen in the Oral and Maxillofacial Radiology Special Procedures Clinic in the Faculty of Dentistry at the University of Toronto.
  • METHODS: This study examines the number and radiographic features of KOTs identified in 11 NBCCS patients who presented with 43 KOTs between January 1989 and 30 June 2007 on plain film radiographs and CT.
  • CONCLUSIONS: Our results suggest that there should be early and frequent monitoring of NBCCS patients for the development of KOTs in youth and adolescence, and that CT imaging should play an important role in these investigations.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Odontogenic Tumors / pathology

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  • (PMID = 19767519.001).
  • [ISSN] 0250-832X
  • [Journal-full-title] Dento maxillo facial radiology
  • [ISO-abbreviation] Dentomaxillofac Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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93. Leonardi R, Santarelli A, Barbato E, Ciavarella D, Bolouri S, Härle F, Palazzo G, Lo Muzio L: Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome. Anticancer Res; 2010 Oct;30(10):4265-7
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCCS), first described by Gorlin and Goltz in 1960, is a hereditary autosomal dominant disease with high penetrance and variable expressivity.
  • Almost 70% of patients with NBCCS have some degree of craniofacial anomaly.
  • Therefore this investigation was carried out to determine the prevalence of atlanto-occipital ligament calcification on lateral x-ray of NBCCS patients aiming to assess the effectiveness of this sign in NBCCS diagnosis.
  • PATIENTS AND METHODS: Lateral and frontal cephalometric radiographs of 18 patients (11 males and 7 females), aged 8-61 years, with the diagnosis of NBCCS were evaluated for the presence of intracranial calcifications (diaphragma sellae and falx cerebri) and or calcification of the atlanto-occipital ligament.
  • CONCLUSION: The calcification of the atlanto-occipital ligament should be considered in addition to the other major criteria for NBCCS diagnosis.
  • [MeSH-major] Atlanto-Occipital Joint / pathology. Basal Cell Nevus Syndrome / pathology. Calcinosis / pathology

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  • (PMID = 21036751.001).
  • [ISSN] 1791-7530
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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94. Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T: Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations. J Hum Genet; 2009 Jul;54(7):398-402
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria.
  • To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Cleft Lip / complications. Cleft Palate / complications. Genetic Predisposition to Disease. Mutation / genetics. Receptors, Cell Surface / genetics


95. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T: Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2010 Aug;110(2):e41-6
Genetic Alliance. consumer health - Basal Cell Carcinoma, Multiple.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Although multiple jaw tumors, such as keratocystic odontogenic tumors (KCOTs), are one of the most frequent complications in NBCCS, the molecular mechanism for how KCOTs develop in NBCCS is poorly understood.
  • A 15-year-old girl with 2 jaw tumors was diagnosed as NBCCS according to the clinical criteria.
  • The pathologic findings indicated that the 2 tumors were consistent with KCOTs.
  • A PTCH1 mutation, c.1472delT, was detected in her peripheral blood as well as in the 2 tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Mandibular Neoplasms / etiology. Maxillary Neoplasms / etiology. Odontogenic Tumors / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2010 Mosby, Inc. All rights reserved.
  • (PMID = 20659694.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Ki-67 Antigen; 0 / Receptors, Cell Surface; 0 / patched receptors; 136601-57-5 / Cyclin D1; 68238-35-7 / Keratins
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96. Cobourne MT, Xavier GM, Depew M, Hagan L, Sealby J, Webster Z, Sharpe PT: Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome. Dev Biol; 2009 Jul 01;331(1):38-49
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  • [Title] Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant or spontaneous disorder characterized by multiple cutaneous basal cell carcinomas, odontogenic keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate.
  • Causative mutations for NBCCS occur in the PTCH1 gene on chromosome 9q22.3-q31, which encodes the principle receptor for the Hedgehog signalling pathway.
  • We have investigated the molecular basis of craniofacial defects seen in NBCCS using a transgenic mouse model expressing Shh in basal epithelium under a Keratin-14 promoter.
  • Significantly, increased Hedgehog signal transduction in these mice can influence cell fate within the craniofacial region.
  • In contrast, high levels of Shh in odontogenic epithelium arrests tooth development at the bud stage, secondary to a lack of cell proliferation in this region.
  • These findings illustrate the importance of appropriately regulated Hedgehog signalling during early craniofacial development and demonstrate that oro-facial clefting and hypodontia seen in NBCCS can occur as a direct consequence of increased Shh signal activity within embryonic epithelial tissues.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Hedgehog Proteins / genetics. Tooth / growth & development
  • [MeSH-minor] Abnormalities, Multiple / genetics. Animals. Cell Death. Cell Division. Chromosome Mapping. Chromosomes, Human, Pair 9. Cleft Palate / genetics. DNA Primers. Disease Models, Animal. Humans. In Situ Hybridization. Keratin-14 / genetics. Medulloblastoma / pathology. Mice. Mice, Transgenic. Promoter Regions, Genetic

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  • (PMID = 19394325.001).
  • [ISSN] 1095-564X
  • [Journal-full-title] Developmental biology
  • [ISO-abbreviation] Dev. Biol.
  • [Language] eng
  • [Grant] United Kingdom / Medical Research Council / / G0200709; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Hedgehog Proteins; 0 / Keratin-14; 0 / SHH protein, human; 0 / Shh protein, mouse
  • [Other-IDs] NLM/ PMC2696601
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97. Wang SQ, Goldberg LH: Multiple polypoid basal cell carcinomas on the perineum of a patient with basal cell nevus syndrome. J Am Acad Dermatol; 2007 Aug;57(2 Suppl):S36-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple polypoid basal cell carcinomas on the perineum of a patient with basal cell nevus syndrome.
  • We present a case report of a patient with basal cell nevus syndrome (BCNS) who developed multiple polypoid basal cell carcinomas (PBCC) in the perineum.
  • We recommend that the perineum, perianal, and genital areas should be included in the routine exam of patients with BCNS.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Genital Neoplasms, Male / pathology. Skin Neoplasms / pathology

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  • (PMID = 17637368.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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98. de Lange J, Norbruis OF: [A mandibular swelling]. Ned Tijdschr Tandheelkd; 2005 Aug;112(8):298-301

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Transliterated title] Een zwelling van de onderkaak.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is characterised by skeletal anomalies, cutaneous basal cell carcinomas and multiple keratocysts.
  • NBCCS is an autosomal dominant disorder, but can have a variable phenotypic penetration.
  • NBCCS can also arise spontaneously.
  • The prevalence is 1:60.000 and 50-65% of patients with NBCCS have affected family members.
  • A recently diagnosed patient is presented and the manifestations of the syndrome are discussed.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / surgery. Mandibular Diseases / diagnosis. Odontogenic Cysts / diagnosis

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  • (PMID = 16128217.001).
  • [ISSN] 0028-2200
  • [Journal-full-title] Nederlands tijdschrift voor tandheelkunde
  • [ISO-abbreviation] Ned Tijdschr Tandheelkd
  • [Language] dut
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Netherlands
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99. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T: High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet; 2007 Dec;122(5):459-66
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  • [Title] High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
  • In this study, we used newly designed high-resolution oligonucleotide microarrays with a median distance between the probes of 776 bp (average probe interval 2,271 bp) to detect gene deletions in nevoid basal cell carcinoma syndrome (NBCCS) patients.
  • NBCCS, also called Gorlin syndrome, is characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the human patched-1 (PTCH1) gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Sequence Deletion
  • [MeSH-minor] Base Sequence. Child. Chromosomes, Human, Pair 9 / genetics. DNA Mutational Analysis. DNA, Neoplasm / genetics. Humans. Male. Molecular Sequence Data. Oligonucleotide Array Sequence Analysis / methods. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics. Sequence Homology, Nucleic Acid

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  • (PMID = 17703323.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface
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100. Butzelaar L, Breugem CC, Hanlo P, Mink van der Molen AB: Is isolated sagittal synostosis an isolated condition? J Craniofac Surg; 2009 Mar;20(2):399-401
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • In the medical literature, there is little information about the association of scaphocephaly and other congenital anomalies.
  • PATIENTS AND METHODS: To determine the prevalence of genetic anomalies in scaphocephaly patients, a retrospective review of the medical charts of 30 consecutive patients was performed.
  • A genetic mutation on the FGFR-2 gene was found in 1 patient with Gorlin-Goltz syndrome.
  • Except for the basal cell carcinomas and the sagittal synostoses, this patient had no other congenital anomalies.
  • CONCLUSIONS: This study demonstrates the low incidence of associated congenital anomalies and scaphocephaly.

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  • (PMID = 19276825.001).
  • [ISSN] 1536-3732
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 12001-76-2 / Vitamin B Complex; 935E97BOY8 / Folic Acid; EC 2.7.10.1 / FGFR2 protein, human; EC 2.7.10.1 / Receptor, Fibroblast Growth Factor, Type 2
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