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1. 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
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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 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


2. Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI: Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. J Clin Pathol; 2006 Oct;59(10):1084-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.
  • AIM: To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS).
  • METHODS: Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 17021131.001).
  • [ISSN] 0021-9746
  • [Journal-full-title] Journal of clinical pathology
  • [ISO-abbreviation] J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1861741
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3. Lortscher DN, Sengelmann RD, Allen SB: Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome. Dermatol Online J; 2007;13(2):21
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  • [Title] Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.
  • Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerous other documented clinical features.
  • We describe two patients with known BCNS who were found to have multiple BCCs that clinically resembled acrochordons.
  • Our findings support the biopsy of acrochordon-like growths in patients with basal cell nevus syndrome to rule out basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Cell Transformation, Neoplastic / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Biopsy, Needle. Child. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Immunohistochemistry. Middle Aged. Risk Assessment

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  • (PMID = 17498440.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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4. 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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5. 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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6. Ljubenović M, Ljubenović D, Binić I, Jovanović D, Stanojević M: Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Pannonica Adriat; 2007 Dec;16(4):166-9
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  • [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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7. Pruvost-Balland C, Gorry P, Boutet N, Magnaldo T, Mamelle G, Margulis A, Kolb F, Duvillard P, Spatz A, Brugières L, Chompret A, Avril MF: [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. Ann Dermatol Venereol; 2006 Feb;133(2):117-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Clinical and genetic study in 22 patients with basal cell nevus syndrome].
  • [Transliterated title] Etude clinique et recherche de mutations germinales du gène PTCH 1 dans le syndrome des hamartomes basocellulaires.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental abnormalities and cancer predisposition.
  • The PTCH 1 gene, the human homolog of the Drosophila segment polarity gene patched, has been shown to be involved in the development of nevoid basal cell carcinoma syndrome.
  • The aim of the present study was to report on clinical and genetic characteristics in patients followed for nevoid basal cell carcinoma syndrome and to compare them to the data in the literature.
  • PATIENTS AND METHODS: Screening for PTCH 1 mutations was done in 22 patients followed between 1981 and 2003 for clinical suspicion of nevoid basal cell carcinoma syndrome.
  • RESULTS: All patients had developed basal cell carcinomas: 45% palmar and plantar pitting, 62% jaw cysts and 66% calcification of falx cerebri.
  • Medulloblastomas and meningiomas were the most common associated tumors.
  • DISCUSSION: Genetic analysis allows molecular confirmation of diagnosis in about half of all patients.
  • Early diagnosis is essential for detection of clinical and radiological manifestations in young patients and for provision of advice concerning protection of the skin from the sunlight.
  • [MeSH-major] Basal Cell Nevus Syndrome
  • [MeSH-minor] Adolescent. Adult. Age Factors. Aged. Aged, 80 and over. Chromosomes, Human, Pair 9 / genetics. Female. Germ-Line Mutation. Humans. Male. Middle Aged. Receptors, Cell Surface / genetics. Retrospective Studies. Sex Factors

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  • [CommentIn] Ann Dermatol Venereol. 2007 Jan;134(1):75 [17384552.001]
  • (PMID = 16508594.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 22
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8. 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
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  • [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

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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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9. Gilchrest BA, Brightman LA, Thiele JJ, Wasserman DI: Photodynamic therapy for patients with Basal cell nevus syndrome. Dermatol Surg; 2009 Oct;35(10):1576-81
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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 for patients with Basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy

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  • [ErratumIn] Dermatol Surg. 2010 Jan;36(1):160
  • (PMID = 19681991.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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10. Field LM: Re: Abrasive procedures and basal cell nevus syndrome. Dermatol Surg; 2005 Jan;31(1):121
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Re: Abrasive procedures and basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Dermabrasion. Facial Neoplasms / therapy

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  • (PMID = 15720111.001).
  • [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] Letter
  • [Publication-country] United States
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11. Zurada J, Ratner D: Diagnosis and treatment of basal cell nevus syndrome. Skinmed; 2005 Mar-Apr;4(2):107-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / diagnosis. Skin Neoplasms / therapy

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  • (PMID = 15788894.001).
  • [ISSN] 1540-9740
  • [Journal-full-title] Skinmed
  • [ISO-abbreviation] Skinmed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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12. Mseddi M, Dammak A, Marrekchi S, Bouassida S, Masmoudi A, Turki H, Zahaf A: [Basal cell nevus syndrome: diagnosis and treatment]. Tunis Med; 2008 Jul;86(7):724-5
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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: diagnosis and treatment].
  • [Transliterated title] La Noevomatose basocellulaire: particularités cliniques, diagnostiques et thérapeutique.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / surgery

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  • (PMID = 19472747.001).
  • [ISSN] 0041-4131
  • [Journal-full-title] La Tunisie médicale
  • [ISO-abbreviation] Tunis Med
  • [Language] fre
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Tunisia
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13. Goldberg LH, Firoz BF, Weiss GJ, Blaydorn L, Jameson G, Von Hoff DD: Basal cell nevus syndrome: a brave new world. Arch Dermatol; 2010 Jan;146(1):17-9
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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: a brave new world.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Skin Neoplasms / genetics
  • [MeSH-minor] Diagnosis, Differential. Genetic Predisposition to Disease. Humans. Low-Level Light Therapy / methods. Male. Middle Aged. Mohs Surgery / methods

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  • (PMID = 20083687.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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14. Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y: Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. J Hum Genet; 2009 Jul;54(7):403-8
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  • [Title] Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
  • Basal cell nevus syndrome (BCNS or Gorlin syndrome, OMIM: 109400) is a rare autosomal dominant disorder with high penetrance.
  • It is characterized by developmental anomalies and predisposition to tumors (for example, basal cell carcinoma (BCC) and medulloblastoma).
  • PTCH1, the human homolog of the Drosophila patched gene, was identified as a gene responsible for BCNS.
  • The PTCH1 protein is a Hedgehog (Hh) protein receptor and is pivotal for early development, stem cell maintenance and/or differentiation.
  • We analyzed the six Japanese families with BCNS and identified six germline mutations in the PTCH1 gene.
  • One family had a nonsense mutation (c.1196G>A), one had a 1-bp deletion (c.2029delA), two had 2-bp deletions (c.239_240delGA and c.1670_1671delCA) and one had a 58-bp duplication (c.1138_1195dup).
  • These data indicated that all the six families who were diagnosed with BCNS had mutations in the PTCH1 gene and that a single copy of a PTCH1 mutation causes BCNS.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Receptors, Cell Surface / genetics


15. Taylor SF, Cook AE, Leatherbarrow B: Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2006 Jul-Aug;22(4):259-65
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Review of patients with basal cell nevus syndrome.
  • PURPOSE: To review patients with basal cell nevus syndrome (BCNS), documenting presentation, referrals, treatment patterns, and associated morbidity.
  • METHODS: Cross-sectional review and retrospective data collection of 39 patients with BCNS.
  • Patients from the BCNS support group were invited to be examined.
  • Demographic data, age at presentation, age at diagnosis, spectrum of ophthalmic and periocular disease, treatment modalities used, and periocular deformities developed were reviewed.
  • Presenting clinical features included odontogenic keratocyst in 17 patients and basal cell carcinoma in 13 patients; less common presentations were with congenital malformations (n = 2), with ophthalmic associations (n = 3), and at genetic counseling (n = 4).
  • Seventeen of the 39 patients confirmed a parental diagnosis of BCNS.
  • Basal cell carcinoma developed in 18 of the 28 patients before the age of 30, confirming the reported early age of onset.
  • Periocular basal cell carcinoma was reported in 24 of 39 patients (61%), with recurrent disease reported in 17 of these 24 (71%), despite a variety of treatment modalities used.
  • Associated ophthalmic features were multiple eyelid cysts (15 patients), strabismus (9 patients), myopia (5 patients), hyperopia (7 patients), cataracts (5 patients), myelinated nerve fibers (3 patients), amblyopia (3 patients), and nystagmus and iris transillumination defects (2 patients each).
  • CONCLUSIONS: Patients with BCNS frequently have ophthalmic manifestations, particularly periocular basal cell carcinoma.
  • Multidisciplinary care is essential in the care of the patient with BCNS.
  • Early diagnosis of BCNS may allow for skin protection and surveillance at an earlier age.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Aged. Carcinoma, Basal Cell / pathology. Child. Child, Preschool. Cross-Sectional Studies. Eye Diseases / diagnosis. Eyelid Neoplasms / pathology. Female. Genetic Counseling. Humans. Male. Middle Aged. Retrospective Studies

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  • (PMID = 16855496.001).
  • [ISSN] 0740-9303
  • [Journal-full-title] Ophthalmic plastic and reconstructive surgery
  • [ISO-abbreviation] Ophthal Plast Reconstr Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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16. 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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17. Campbell RM, Mader RD, Dufresne RG Jr: Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol; 2005 Nov;53(5 Suppl 1):S256-9
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  • [Title] Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome.
  • A 23-year-old woman with basal cell nevus syndrome (BCNS), or Gorlin's syndrome, was given the diagnosis at age 2 years of a medulloblastoma that was resected and treated postoperatively with craniospinal irradiation.
  • Multiple basal cell carcinomas developed at the craniospinal irradiation port site 8 years later.
  • She subsequently developed multiple meningiomas within the area of irradiation at age 20 years.
  • This case reviews early presentation of BCNS, newly described differences between medulloblastomas in patients with BCNS and nonsyndromic medulloblastomas, and global assessment of patients by the treating dermatologist of this patient population.
  • This is the first report in the dermatologic literature, to our knowledge, of radiation-induced meningiomas in a patient with BCNS.
  • [MeSH-major] Basal Cell Nevus Syndrome / epidemiology. Cerebellar Neoplasms / radiotherapy. Medulloblastoma / radiotherapy. Meningeal Neoplasms / epidemiology. Meningioma / epidemiology

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  • (PMID = 16227103.001).
  • [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; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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18. Burgdorf WH: Cancer-associated genodermatoses: a personal history. Exp Dermatol; 2006 Sep;15(9):653-66

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The historical, clinical and dermatopathological aspects of basal cell nevus syndrome, Muir-Torre syndrome, Cowden syndrome, Carney complex and Birt-Hogg-Dubé syndrome are reviewed in a personal and informal fashion.
  • [MeSH-major] Neoplastic Syndromes, Hereditary / diagnosis. Skin Diseases, Genetic / diagnosis
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / physiopathology. Hamartoma Syndrome, Multiple / diagnosis. Hamartoma Syndrome, Multiple / physiopathology. Humans. Skin / pathology

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  • (PMID = 16881962.001).
  • [ISSN] 0906-6705
  • [Journal-full-title] Experimental dermatology
  • [ISO-abbreviation] Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 93
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19. Saran A: Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling. Future Oncol; 2010 Jun;6(6):1003-14
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  • [Title] Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling.
  • Basal cell carcinoma (BCC) is the most frequent cancer in the white population and its incidence appears to be increasing worldwide.
  • While the majority of BCCs arise sporadically, many cases are attributable to basal cell nevus syndrome, or Gorlin syndrome, an autosomal dominantly inherited disorder characterized by the occurrence of multiple BCCs and by extracutaneous tumors.
  • Genetic studies on patients with basal cell nevus syndrome indicate deregulation of the Hedgehog (Hh) pathway in epidermal keratinocytes as the primary event in the pathogenesis of BCC.
  • This article summarizes the recent progress in understanding Hh-dependent BCC tumorigenesis, as well as evidence for deregulation of other molecular pathways, primarily the Wnt developmental pathway.
  • Understanding the molecular genetics of BCC development has provided new opportunities for molecular therapy of this cancer by targeting Hh and other signaling pathways.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Cell Transformation, Neoplastic / genetics. Hedgehog Proteins / physiology. Neoplasm Proteins / physiology. Signal Transduction / physiology. Skin Neoplasms / genetics
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Cilia / physiology. DNA Repair. Forkhead Transcription Factors / physiology. Hair Follicle / growth & development. Humans. Keratinocytes / metabolism. Mammals / genetics. Mice. Mice, Knockout. Mice, Transgenic. PTEN Phosphohydrolase / physiology. Receptors, Cell Surface / deficiency. Receptors, Cell Surface / genetics. Receptors, Cell Surface / physiology. Receptors, G-Protein-Coupled / genetics. Receptors, G-Protein-Coupled / physiology. Repressor Proteins / deficiency. Repressor Proteins / genetics. Repressor Proteins / physiology. Skin / growth & development. Wnt Proteins / physiology

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  • (PMID = 20528237.001).
  • [ISSN] 1744-8301
  • [Journal-full-title] Future oncology (London, England)
  • [ISO-abbreviation] Future Oncol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Forkhead Transcription Factors; 0 / Hedgehog Proteins; 0 / Neoplasm Proteins; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / Repressor Proteins; 0 / SMO protein, human; 0 / SUFU protein, human; 0 / Smo protein, mouse; 0 / Sufu protein, mouse; 0 / Wnt Proteins; 0 / patched receptors; EC 3.1.3.67 / PTEN Phosphohydrolase
  • [Number-of-references] 150
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20. Harris MS, Robbins AC, Neuburg M, Michel MA, Friedland DR: Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. Otolaryngol Head Neck Surg; 2008 Sep;139(3):480-1
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  • [Title] Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / epidemiology. Bone Diseases / epidemiology. Cholesteatoma / epidemiology. Petrous Bone

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  • (PMID = 18722240.001).
  • [ISSN] 0194-5998
  • [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] Case Reports; Journal Article
  • [Publication-country] United States
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21. 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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  • [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.

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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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22. Abreu Velez AM, Howard MS: Diagnosis and treatment of cutaneous paraneoplastic disorders. Dermatol Ther; 2010 Nov-Dec;23(6):662-75
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of cutaneous paraneoplastic disorders.
  • Cutaneous signs of these disorders afford clinicians opportunities for early diagnosis and treatment.
  • We aim to succinctly review the recognition, diagnosis, and treatment of selected cutaneous paraneoplastic diseases.
  • Skin disorders that may be associated with paraneoplastic syndromes include: cutaneous metastases, tripe palms, Sweet's syndrome, glucagonoma, Paget's disease and extramammary Paget's disease, acanthosis nigricans, Birt-Hogg-Dube syndrome, basal cell nevus syndrome, Bazex syndrome (acrokeratosis paraneoplastica), carcinoid syndrome, Cowden's disease(multiple hamartoma syndrome), dermatomyositis, erythema gyratum repens, ichthyosis aquisita, von Recklinghausen's disease, pityriasis rotunda, pyoderma gangrenosum, Quincke's edema (angioedema and paraneoplastic uricaria), paraneoplastic pemphigus, Degos' disease, superior vena cava syndrome, Werner's syndrome, diffuse normolipemic plane xanthomas, and yellow nail syndrome.
  • [MeSH-major] Paraneoplastic Syndromes / diagnosis. Paraneoplastic Syndromes / therapy. Skin Diseases / diagnosis. Skin Diseases / therapy

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 21054710.001).
  • [ISSN] 1529-8019
  • [Journal-full-title] Dermatologic therapy
  • [ISO-abbreviation] Dermatol Ther
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
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23. Zhang XB, Zhang SQ, Li CX, Huang ZM, Luo YW: Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma. Dermatol Reports; 2010 Jan 18;2(1):e4

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma.
  • Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC).
  • We report 4 cases with BCC confirmed by histopathology who were treated by short-term systemic acitretin combined with retinoic acid 0.1% cream.
  • The 4 cases with BCC showed good response to the treatment without severe adverse effects during treatment and follow-up.
  • The finding suggests that acitretin may be an appropriate treatment option for elderly patients who require less invasive treatment for BCC.

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  • (PMID = 25386240.001).
  • [ISSN] 2036-7392
  • [Journal-full-title] Dermatology reports
  • [ISO-abbreviation] Dermatol Reports
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Other-IDs] NLM/ PMC4211482
  • [Keywords] NOTNLM ; acitretin / basal cell carcinoma.
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24. Caro I, Low JA: The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment. Clin Cancer Res; 2010 Jul 1;16(13):3335-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment.
  • The hedgehog (Hh) signaling pathway plays an important role in embryogenesis across multiple species.
  • However, activation of the pathway has been shown to be a factor in the development of a number of human malignancies and inhibition of the pathway is being investigated as a potential treatment for multiple cancers.
  • The most extensively investigated and best characterized is basal cell carcinoma (BCC), which occurs in both an inherited form (basal cell nevus syndrome or Gorlin's syndrome) and a sporadic form.
  • There is recent data available on the use of a small molecule inhibitor of the pathway in BCC.
  • [MeSH-major] Carcinoma, Basal Cell / metabolism. Hedgehog Proteins / metabolism. Skin Neoplasms / metabolism
  • [MeSH-minor] Basal Cell Nevus Syndrome / metabolism. Humans. Ligands. Receptors, G-Protein-Coupled / metabolism. Signal Transduction

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  • (PMID = 20439455.001).
  • [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; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Ligands; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human
  • [Number-of-references] 25
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25. Badri T, Zeglaoui F, Kochbati L, Kooli H, El Fekih N, Fazaa B, Kamoun MR: [Multiple basal cell carcinomas following radiation therapy for nasopharyngeal cancer]. Presse Med; 2006 Jan;35(1 Pt 1):55-7
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  • [Title] [Multiple basal cell carcinomas following radiation therapy for nasopharyngeal cancer].
  • [Transliterated title] Carcinomes basocellulaires multiples après radiothérapie pour cancer du cavum.
  • INTRODUCTION: Basal cell carcinoma (BCC) is a cutaneous, generally primary malignancy, most common among the elderly.
  • Eleven years earlier, she had had an undifferentiated nasopharyngeal carcinoma (T3N2M0), which was treated by neoadjuvant chemotherapy and then external radiation therapy.
  • Initial cutaneous examination noted two lesions that were identified as BCC after biopsy.
  • The tumors were excised surgically.
  • Neither clinical nor radiological check up showed signs of basal cell nevus syndrome.
  • DISCUSSION: BCC is the most frequent malignant tumor.
  • Disorders that might promote or complicate BCC should be systematically sought in young patients, especially basal cell nevus syndrome.
  • While our patient may have had this syndrome, we found none of the other clinical or radiographic elements often observed with it.
  • The occurrence of BCC within the irradiation area, the multiplicity of lesions, and the sufficient latency period are consistent with radiation-induced tumors.
  • We found no reports in the literature of BCC following radiation treatment for nasopharyngeal cancer, but the occurrence of these tumors in our patient suggests the need for close supervision in such cases.
  • [MeSH-major] Carcinoma, Basal Cell / etiology. Nasopharyngeal Neoplasms / radiotherapy. Neoplasms, Multiple Primary / etiology. Neoplasms, Radiation-Induced / etiology. Radiotherapy / adverse effects. Skin Neoplasms / etiology

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  • (PMID = 16462665.001).
  • [ISSN] 0755-4982
  • [Journal-full-title] Presse medicale (Paris, France : 1983)
  • [ISO-abbreviation] Presse Med
  • [Language] fre
  • [Publication-type] Case Reports; Comparative Study; English Abstract; Journal Article
  • [Publication-country] France
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26. High A, Zedan W: Basal cell nevus syndrome. Curr Opin Oncol; 2005 Mar;17(2):160-6
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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.
  • PURPOSE OF REVIEW: Basal cell nevus syndrome (BCNS), is a hereditary condition transmitted as an autosomal dominant trait exhibiting high penetrance and variable expressivity.
  • Inherited or spontaneous mutations in the human homologue of the Drosophila patched gene underlie the disorder and in addition to tumor predisposition, are associated with a range of 'patterning' defects.
  • Recent advances, with glimpses of possible therapies are emerging, but because of the wide-ranging nature of phenotypic expression and overlap with other syndromes, there is difficulty.
  • RECENT FINDINGS: Progress has been achieved in understanding the role of Gli-1, 2, & 3 in development of 'sporadic' BCCs and BCNS.
  • SUMMARY: In BCNS, phenotype does not correlate with position of mutations within Patched, suggesting genetic makeup and environment modulate effects of premature protein truncation induced by PTCH mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / etiology. Skin Neoplasms / etiology

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  • (PMID = 15725922.001).
  • [ISSN] 1040-8746
  • [Journal-full-title] Current opinion in oncology
  • [ISO-abbreviation] Curr Opin Oncol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Membrane Proteins
  • [Number-of-references] 59
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27. Belliveau MJ, Coupal DJ, Brownstein S, Jordan DR, Prokopetz R: Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2010 May-Jun;26(3):147-52
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  • [Title] Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome.
  • PURPOSE: To describe the histopathologic findings in a series of eyelid basal cell carcinomas removed from patients with basal cell nevus syndrome.
  • METHODS: Retrospective case series of 5 patients with basal cell nevus syndrome identified from our oculoplastics service.
  • The pertinent published literature on basal cell nevus syndrome and eyelid basal cell carcinoma was reviewed.
  • Twenty-three of these lesions were basal cell carcinomas.
  • The infundibulocystic variant of basal cell carcinoma was identified most commonly (57%).
  • CONCLUSIONS: Eyelid basal cell carcinomas in patients with basal cell nevus syndrome were commonly of the infundibulocystic variety in our series.
  • Infundibulocystic basal cell carcinomas, which can be clinically indistinguishable from the more common forms, are thought to be less aggressive than other types of basal cell carcinoma and are a reassuring histopathologic diagnosis.
  • It is important for the ophthalmologist and pathologist to be aware of infundibulocystic basal cell carcinomas, as they are more common in patients with basal cell nevus syndrome and may be a clue to the diagnosis of this autosomal dominant cancer-predisposition syndrome or other associated syndromes.
  • To our knowledge, this variant of basal cell carcinoma has not been previously discussed in the ophthalmic literature.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology


28. Tang JY, Wu A, Linos E, Parimi N, Lee W, Aszterbaum M, Asgari MM, Bickers DR, Epstein EH Jr: High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome. Arch Dermatol; 2010 Oct;146(10):1105-10
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  • [Title] High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome.
  • OBJECTIVES: To evaluate vitamin D status in patients with basal cell nevus syndrome (BCNS) who practice photoprotection because of their genetic predisposition to skin cancer and to determine risk factors for deficiency.
  • PATIENTS: Forty-one ambulatory patients with BCNS who participated in a 2-year chemoprevention clinical trial.
  • RESULTS: Twenty-three patients with BCNS (56%) were vitamin D deficient.
  • Patients with BCNS had mean 25(OH)D levels below those of the general population (-3 ng/mL; P = .02) and were 3 times more likely to be vitamin D deficient (56% vs 18%; P < .001).
  • CONCLUSION: Patients with BCNS may be at increased risk for vitamin D deficiency, depending on their adherence to photoprotection practices.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Skin Neoplasms / complications. Vitamin D Deficiency / epidemiology. Vitamin D Deficiency / etiology

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  • (PMID = 20956641.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Databank-accession-numbers] ClinicalTrials.gov/ NCT00023621
  • [Grant] United States / NCI NIH HHS / CA / U19 CA081888; United States / NIAMS NIH HHS / AR / 1K23AR056736-01; United States / NCI NIH HHS / CA / CA81888; United States / NCRR NIH HHS / RR / KL2 RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736-03; United States / NCI NIH HHS / CN / CN-95116; United States / NCRR NIH HHS / RR / KL2RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 1406-16-2 / Vitamin D; 64719-49-9 / 25-hydroxyvitamin D
  • [Other-IDs] NLM/ NIHMS298538; NLM/ PMC3775573
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29. Panhuysen CI, Karban A, Knodle Manning A, Bayless TM, Duerr RH, Bailey-Wilson JE, Epstein EH Jr, Brant SR: Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. Hum Genet; 2006 Aug;120(1):31-41
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  • [Title] Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree.
  • Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant disease.
  • Inflammatory Bowel Disease (IBD) is a complex genetic disorder, disproportionate in Ashkenazim, and characterized by chronic intestinal inflammation.
  • We revisited a large Ashkenazim pedigree, first reported in 1968, with multiple diagnoses of BCNS and IBD, and with a common genetic cause for both disorders proposed.
  • We expanded the pedigree to four generations and performed a genome-wide linkage study for BCNS and IBD traits.
  • Twelve members with BCNS, seven with IBD, five with both diagnoses and eight unaffected were genotyped.
  • BCNS linked to chromosome 9q22 (D9S1120) just proximal to the PTCH1 gene (NPL=3.26, P=0.003; parametric two-point LOD=2.4, parametric multipoint LOD=3.7).
  • In this pedigree affected by both BCNS and IBD, the two traits and their respective candidate genetic loci segregate independently; BCNS maps to the PTCH1 gene and IBD maps to several candidate regions, mostly overlapping previously observed IBD loci.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Predisposition to Disease / genetics. Inflammatory Bowel Diseases / genetics. Skin Neoplasms / genetics

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  • (PMID = 16733713.001).
  • [ISSN] 0340-6717
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Grant] United States / NIDDK NIH HHS / DK / R01DK58189; United States / NCRR NIH HHS / RR / RR00052
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
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30. Derwińska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P: PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur J Hum Genet; 2009 Feb;17(2):267-71
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  • The development of array CGH has enabled the detection of chromosomal microduplications with nearly the same sensitivity as deletions, leading to the discovery of previously unrecognized syndromes.
  • Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7.
  • [MeSH-major] Developmental Disabilities / genetics. Microcephaly / genetics. Receptors, Cell Surface / genetics

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  • [Cites] Am J Med Genet A. 2004 Aug 15;129A(1):21-4 [15266610.001]
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  • (PMID = 18830227.001).
  • [ISSN] 1476-5438
  • [Journal-full-title] European journal of human genetics : EJHG
  • [ISO-abbreviation] Eur. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2986050
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31. Alcalay J, Ben-Amitai D, Alkalay R: Idiopathic basal cell carcinoma in children. J Drugs Dermatol; 2008 May;7(5):479-81
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] Idiopathic basal cell carcinoma in children.
  • Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer in humans, and is the most common malignant neoplasm among adults in the US.
  • Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy.
  • A girl with idiopathic onset of BCC who was treated with Mohs micrographic surgery is reported.
  • A total of 108 children including this patient were reported with idiopathic de novo BCC.
  • Most of the tumors were nodular and located on the head, the same as in adults.
  • Basal cell carcinoma in children is probably the result of genetic background and intense ultraviolet radiation exposure.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 18505143.001).
  • [ISSN] 1545-9616
  • [Journal-full-title] Journal of drugs in dermatology : JDD
  • [ISO-abbreviation] J Drugs Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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32. Davari P, Hebert JL, Albertson DG, Huey B, Roy R, Mancianti ML, Horvai AE, McDaniel LD, Schultz RA, Epstein EH Jr: Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice. Carcinogenesis; 2010 Jun;31(6):968-73
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

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  • [Title] Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.
  • Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown.
  • The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMSs), another cancer to which Ptch1(+/)(-) mice and PTCH1(+/)(-) (basal cell nevus syndrome) patients are susceptible.
  • Despite the quantitative differences, there was no dramatic qualititative difference in the BCC or RMS tumors associated with the mutant Blm genotype.

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  • (PMID = 19995795.001).
  • [ISSN] 1460-2180
  • [Journal-full-title] Carcinogenesis
  • [ISO-abbreviation] Carcinogenesis
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / CA84118
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.6.1.- / Bloom syndrome protein; EC 3.6.4.12 / RecQ Helicases
  • [Other-IDs] NLM/ PMC2878356
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33. Reichrath J: Sunlight, skin cancer and vitamin D: What are the conclusions of recent findings that protection against solar ultraviolet (UV) radiation causes 25-hydroxyvitamin D deficiency in solid organ-transplant recipients, xeroderma pigmentosum, and other risk groups? J Steroid Biochem Mol Biol; 2007 Mar;103(3-5):664-7
MedlinePlus Health Information. consumer health - Vitamin D Deficiency.

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  • We have shown that patients that have to protect themselves against solar UV radiation for medical reasons, including patients with xeroderma pigmentosum (XP), basal cell nevus syndrome (BCNS), lupus erythematodes (LE) or transplant recipients, are at risk to develop vitamin D deficiency.
  • Our finding that protection against solar UV radiation causes vitamin D deficiency underlines the need for re-defining dermatological recommendations for solar UV protection in skin cancer prevention programs.

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  • (PMID = 17204418.001).
  • [ISSN] 0960-0760
  • [Journal-full-title] The Journal of steroid biochemistry and molecular biology
  • [ISO-abbreviation] J. Steroid Biochem. Mol. Biol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 1406-16-2 / Vitamin D; 64719-49-9 / 25-hydroxyvitamin D
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34. Chen HM, Fang JY: Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis; 2009 Aug;24(8):865-74
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  • [Title] Genetics of the hamartomatous polyposis syndromes: a molecular review.
  • BACKGROUND AND AIMS: Hamartomatous polyposis syndromes are a heterogeneous group of disorders that are inherited in an autosomal dominant fashion.
  • These syndromes only represent a small number of the inherited gastrointestinal cancer predisposition syndromes.
  • However, many of these syndromes carry a substantial risk for developing colorectal cancer, as well as extra-colonic malignancy.
  • MATERIALS AND METHODS: We searched for articles on inherited hamartomatous polyposis syndromes, including familial juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, multiple endocrine neoplasia syndrome 2B, hereditary mixed polyposis syndrome, Cronkhite-Canada syndrome, basal cell nevus syndrome, and neurofibromatosis 1, in PubMed, Embase, and Elsevier ScienceDirect.
  • In this review, we briefly discuss the diagnosis and clinical features of these disorders and the molecular alterations responsible for these syndromes.
  • RESULTS AND CONCLUSION: Given the clinical similarities of these hamartomatous syndromes and the autosomal dominant pattern of inheritance, it is sometimes difficult to differentiate hamartomatous polyps, especially with atypical presentation.
  • The molecular analysis and diagnosis make it possible to identify the subtype of these syndromes.
  • [MeSH-major] Gene Expression Regulation, Neoplastic. Hamartoma / genetics. Neoplastic Syndromes, Hereditary / genetics
  • [MeSH-minor] Adenomatous Polyposis Coli / genetics. Basal Cell Nevus Syndrome / genetics. Diagnosis, Differential. Genetic Predisposition to Disease. Genetic Testing. Hamartoma Syndrome, Multiple / genetics. Humans. Multiple Endocrine Neoplasia Type 2b / genetics. Mutation. Neurofibromatosis 1 / genetics. PTEN Phosphohydrolase / genetics. Pedigree. Peutz-Jeghers Syndrome / genetics. Prognosis

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  • (PMID = 19381654.001).
  • [ISSN] 1432-1262
  • [Journal-full-title] International journal of colorectal disease
  • [ISO-abbreviation] Int J Colorectal Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] EC 3.1.3.48 / PTEN protein, human; EC 3.1.3.67 / PTEN Phosphohydrolase
  • [Number-of-references] 85
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35. 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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  • [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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36. Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW: A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A; 2007 Aug 15;143A(16):1885-9
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  • Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32.
  • Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B.
  • Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS.
  • Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9. Intellectual Disability / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Abnormalities, Multiple / diagnosis. Abnormalities, Multiple / genetics. Child. Chromosomes, Artificial, Bacterial. Facies. Female. Genome, Human. Humans. In Situ Hybridization, Fluorescence. Oligonucleotide Array Sequence Analysis / methods. Receptor Tyrosine Kinase-like Orphan Receptors

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17632781.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / HD24064
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ROR2 protein, human; 0 / Receptors, Cell Surface; 0 / patched receptors; EC 2.7.10.1 / Receptor Tyrosine Kinase-like Orphan Receptors
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37. Tang JY, Aszterbaum M, Athar M, Barsanti F, Cappola C, Estevez N, Hebert J, Hwang J, Khaimskiy Y, Kim A, Lu Y, So PL, Tang X, Kohn MA, McCulloch CE, Kopelovich L, Bickers DR, Epstein EH Jr: Basal cell carcinoma chemoprevention with nonsteroidal anti-inflammatory drugs in genetically predisposed PTCH1+/- humans and mice. Cancer Prev Res (Phila); 2010 Jan;3(1):25-34
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  • [Title] Basal cell carcinoma chemoprevention with nonsteroidal anti-inflammatory drugs in genetically predisposed PTCH1+/- humans and mice.
  • In vitro and epidemiologic studies favor the efficacy of nonsteroidal anti-inflammatory drugs (NSAID) in preventing skin squamous photocarcinogenesis, but there has been relatively little study of their efficacy in preventing the more common skin basal cell carcinoma (BCC) carcinogenesis.
  • We first compared the relative anti-BCC effects of genetic deletion and NSAID pharmacologic inhibition of cyclooxygenase (COX) enzymes in the skin of Ptch1(+/-) mice.
  • We then assessed the effects of celecoxib on the development of BCCs in a 3-year, double-blinded, randomized clinical trial in 60 (PTCH1(+/-)) patients with the basal cell nevus syndrome.
  • In Ptch1(+/-) mice, genetic deletion of COX1 or COX2 robustly decreased (75%; P < 0.05) microscopic BCC tumor burden, but pharmacologic inhibition with celecoxib reduced microscopic BCCs less efficaciously (35%; P < 0.05).
  • In the human trial, we detected a trend for oral celecoxib reducing BCC burden in all subjects (P = 0.069).
  • Considering only the 60% of patients with less severe disease (<15 BCCs at study entry), celecoxib significantly reduced BCC number and burden: subjects receiving placebo had a 50% increase in BCC burden per year, whereas subjects in the celecoxib group had a 20% increase (P(difference) = 0.024).
  • Oral celecoxib treatment inhibited BCC carcinogenesis in PTCH1(+/-) mice and had a significant anti-BCC effect in humans with less severe disease.
  • [MeSH-major] Anti-Inflammatory Agents, Non-Steroidal / therapeutic use. Carcinoma, Basal Cell / prevention & control. Genetic Predisposition to Disease. Pyrazoles / therapeutic use. Receptors, Cell Surface / genetics. Skin Neoplasms / prevention & control. Sulfonamides / therapeutic use
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / genetics. Celecoxib. Chemoprevention. Cyclooxygenase 1 / genetics. Cyclooxygenase 2 / genetics. Double-Blind Method. Heterozygote. Humans. Mice. Mice, Mutant Strains. Patched Receptors. Patched-1 Receptor

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  • [CommentIn] Cancer Prev Res (Phila). 2010 Jan;3(1):4-7 [20051366.001]
  • [CommentIn] Cancer Prev Res (Phila). 2010 Jan;3(1):1-3 [20051365.001]
  • (PMID = 20051370.001).
  • [ISSN] 1940-6215
  • [Journal-full-title] Cancer prevention research (Philadelphia, Pa.)
  • [ISO-abbreviation] Cancer Prev Res (Phila)
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / U19 CA081888; United States / NCRR NIH HHS / RR / M01 RR000079; United States / NCRR NIH HHS / RR / 5 M01 RR-00079; United States / NCI NIH HHS / CA / CA81888; United States / NCRR NIH HHS / RR / KL2 RR024130; United States / NCI NIH HHS / CN / CN-95116; United States / NCRR NIH HHS / RR / M01 RR000079-410580
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents, Non-Steroidal; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Ptch1 protein, mouse; 0 / Pyrazoles; 0 / Receptors, Cell Surface; 0 / Sulfonamides; EC 1.14.99.1 / Cyclooxygenase 1; EC 1.14.99.1 / Cyclooxygenase 2; JCX84Q7J1L / Celecoxib
  • [Other-IDs] NLM/ NIHMS212706; NLM/ PMC2894531
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38. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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


39. Itin PH: Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies. Dermatology; 2009;218(3):221-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies.
  • The authors presented a comprehensive overview of 8 similar cases reported under various designations, and provided evidence that this syndrome includes various additional defects of the bones, teeth and brain.
  • Here, a further typical case is reported, and it is emphasized that this phenotype should no longer be categorized as 'basal cell nevus syndrome', and thus be confused with the nevoid basal cell carcinoma syndrome of Gorlin [Cancer 1965;18:89-104].
  • A 7-year-old boy had multiple whitish and some scattered brownish basaloid follicular hamartomas involving the right side of his body in a systematized pattern following the lines of Blaschko.
  • The molecular basis of the disorder remains to be elucidated.
  • From this case and from 9 similar cases reported in the literature, the spectrum of a distinct phenotype is delineated, and the eponymic designation Happle-Tinschert syndrome is proposed.
  • [MeSH-major] Abnormalities, Multiple. Bone and Bones / abnormalities. Brain Neoplasms. Hamartoma / pathology. Medulloblastoma. Pigmentation Disorders / pathology. Skin Diseases / pathology. Tooth Abnormalities
  • [MeSH-minor] Adolescent. Humans. Male. Syndrome

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  • [Copyright] 2008 S. Karger AG, Basel
  • (PMID = 19005246.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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40. Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z: Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A; 2005 Jan 30;132A(3):324-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
  • Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene.
  • In few cases, the syndrome is due to a microdeletion at 9q22.
  • Using high-resolution chromosome analysis we have identified a patient with the karyotype, 46,XY,del(9)(q21.3q31) de novo.
  • He had typical clinical features consistent with basal cell nevus syndrome, but also additional features likely to be caused by loss of additional chromosomal material in this region.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9 / genetics

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  • [Copyright] (c) 2004 Wiley-Liss, Inc.
  • (PMID = 15690381.001).
  • [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; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Number-of-references] 15
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41. So PL, Fujimoto MA, Epstein EH Jr: Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis. Mol Cancer Ther; 2008 May;7(5):1275-84
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis.
  • Basal cell carcinoma (BCC) is the most common human cancer.
  • Patients with basal cell nevus syndrome (Gorlin syndrome) are highly susceptible to developing many BCCs as a result of a constitutive inactivating mutation in one allele of PATCHED 1, which encodes a tumor suppressor that is a major inhibitor of Hedgehog signaling.
  • Dysregulated Hedgehog signaling is a common feature of both hereditary and sporadic BCCs.
  • Recently, we showed remarkable anti-BCC chemopreventive efficacy of tazarotene, a retinoid with retinoic acid receptor (RAR) beta/gamma specificity, in Ptch1+/- mice when treatment was commenced before carcinogenic insults.
  • In this study, we assessed whether the effect of tazarotene against BCC carcinogenesis is sustained after its withdrawal and whether tazarotene is effective against preexisting microscopic BCC lesions.
  • In vitro, tazarotene inhibited a murine BCC keratinocyte cell line, ASZ001, suggesting that its effect in vivo is by direct action on the actual tumor cells.
  • Finally, we investigated the effects of topical applications of other retinoid-related compounds on BCC tumorigenesis in vivo.
  • Furthermore, inhibition of basal RAR signaling in the skin promoted BCC carcinogenesis, suggesting that endogenous RAR signaling restrains BCC growth.

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  • (PMID = 18483315.001).
  • [ISSN] 1535-7163
  • [Journal-full-title] Molecular cancer therapeutics
  • [ISO-abbreviation] Mol. Cancer Ther.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109584-06; United States / NCI NIH HHS / CA / U19 CA081888; United States / NCI NIH HHS / CA / CA109584; United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / R01 CA109584
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticarcinogenic Agents; 0 / Hedgehog Proteins; 0 / Nicotinic Acids; 0 / Receptors, Retinoic Acid; 0 / Retinoids; 81BDR9Y8PS / tazarotene
  • [Other-IDs] NLM/ NIHMS354844; NLM/ PMC4457328
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42. Schreibman IR, Baker M, Amos C, McGarrity TJ: The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol; 2005 Feb;100(2):476-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The hamartomatous polyposis syndromes: a clinical and molecular review.
  • Familial adenomatous polyposis and hereditary nonpolyposis colon cancer are the two most common heritable colon cancer syndromes.
  • Inherited polyposis syndromes are characterized by the dominant type of polyp (whether adenomatous or hamartomatous) present and by the polyp's location within the gastrointestinal tract.
  • The hamartomatous polyposis syndromes are characterized by an overgrowth of cells native to the area in which they normally occur.
  • They represent a small but appreciable number of the gastrointestinal inherited cancer predisposition syndromes; it is now known that many of these syndromes carry a substantial risk for developing colon cancer as well as other gastrointestinal and pancreatic cancers.
  • Patients afflicted with these syndromes are also at significant risk for extraintestinal malignancies.
  • Seven inherited hamartomatous polyposis syndromes have been described: familial juvenile polyposis syndrome, Cowden's syndrome, Bannayan-Ruvalcaba-Riley syndrome, Peutz-Jeghers syndrome, basal cell nevus syndrome, neurofibromatosis 1, and multiple endocrine neoplasia syndrome 2B.
  • Hereditary mixed polyposis syndrome is a variant of juvenile polyposis characterized by both hamartomatous and adenomatous polyps.
  • The hamartomatous syndromes occur at approximately 1/10th the frequency of the adenomatous syndromes and account for <1% of colorectal cancer in Northern America.
  • While the diagnosis of these inherited syndromes is primarily clinical, genetic testing is now available for all six syndromes.
  • However, there are a significant number of spontaneous mutations seen in each of the syndromes.
  • The purpose of this review is to characterize the clinical and pathological features of these syndromes and to review the targets of cancer surveillance.
  • The molecular alterations responsible for the inherited hamartomatous polyposis syndromes will also be discussed.
  • [MeSH-major] Intestinal Polyps / genetics. Neoplastic Syndromes, Hereditary
  • [MeSH-minor] Abnormalities, Multiple. Adenomatous Polyposis Coli / diagnosis. Adenomatous Polyposis Coli / genetics. Hamartoma Syndrome, Multiple / diagnosis. Hamartoma Syndrome, Multiple / genetics. Humans. Neurofibromatosis 1 / diagnosis. Neurofibromatosis 1 / genetics. Peutz-Jeghers Syndrome / diagnosis. Peutz-Jeghers Syndrome / genetics. Syndrome

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  • (PMID = 15667510.001).
  • [ISSN] 0002-9270
  • [Journal-full-title] The American journal of gastroenterology
  • [ISO-abbreviation] Am. J. Gastroenterol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 113
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43. Kolokythas A, Fernandes RP, Pazoki A, Ord RA: Odontogenic keratocyst: to decompress or not to decompress? A comparative study of decompression and enucleation versus resection/peripheral ostectomy. J Oral Maxillofac Surg; 2007 Apr;65(4):640-4
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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: to decompress or not to decompress? A comparative study of decompression and enucleation versus resection/peripheral ostectomy.
  • PURPOSE: We discuss the outcome of 2 well-established and widely accepted methods used for the treatment of odontogenic keratocyst (OKC), enucleation with peripheral ostectomy or resection and decompression followed by enucleation and peripheral ostectomy.
  • Three of these patients diagnosed with basal cell nevus syndrome and multiple OKCs and 6 patients who did not have adequate follow-up were excluded from this study; thus, 22 patients were evaluated.
  • The last follow-up revealed no recurrences in group I and 2 recurrences in group II.
  • Both patients with recurrence in group II had undergone enucleation of the same lesion in the past, and both cysts recurred within 2 years after initial treatment.
  • [MeSH-major] Mandibular Diseases / surgery. Maxillary Diseases / surgery. Odontogenic Cysts / surgery. Oral Surgical Procedures / methods

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  • (PMID = 17368357.001).
  • [ISSN] 0278-2391
  • [Journal-full-title] Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
  • [ISO-abbreviation] J. Oral Maxillofac. Surg.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 68238-35-7 / Keratins
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44. Alessi SS, Sanches JA, Oliveira WR, Messina MC, Pimentel ER, Festa Neto C: Treatment of cutaneous tumors with topical 5% imiquimod cream. Clinics (Sao Paulo); 2009;64(10):961-6
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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 cutaneous tumors with topical 5% imiquimod cream.
  • INTRODUCTION: There are various approaches to the treatment of cutaneous tumors; one of them is treatment with imiquimod, a synthetic toll-like receptor agonist with a low molecular weight that offers a topical, noninvasive, and non-surgical therapeutic option.
  • The main objective of our study was to provide data on 89 patients who used a 5% imiquimod cream for the treatment of cutaneous tumors at the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas from 2003 to 2008.
  • MATERIALS AND METHODS: Here, we present our experience in the treatment of 123 cutaneous tumors of various types, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), Bowen's disease, erythroplasia of Queyrat, Paget's disease, and trichoepithelioma, with 5% imiquimod cream from 2003 to 2008 in the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas.
  • Patients were divided into two separate groups according to their diagnosis and comorbidities; these comorbidities included epidermodysplasia verruciformis, xeroderma pigmentosum, albinism, basal cell nevus syndrome, Brooke-Spiegler syndrome, HIV, chronic lymphocytic leukemia, B-cell lymphoma, and kidney transplantation.
  • Tumors were located mainly on the face, back, trunk, and legs.
  • These specific patients demonstrated cure rates of 83.5% for superficial BCC and 50% for Bowen's disease.
  • Aggressive BCC and superficial and nodular BCC did not present a good response to treatment.
  • Trichoepitheliomas and nodular BCC showed a partial response, and erythroplasia of Queyrat showed a complete response.
  • For these patients, the cure rates were 85.7% for superficial and nodular BCC, 88% for superficial BCC, 57% for Bowen's disease, 50% for nodular BCC, and 50% for aggressive BCC.
  • One SCC lesion demonstrated a complete response, and tumors caused by Paget's disease and erythroplasia of Queyrat presented a partial response.
  • None of the tumors considered as clinically cured recurred.
  • Having a cutaneous comorbidity, high-risk tumors such as mixed aggressive BCC (sclerodermiform or micronodular), nodular BCC, or Bowen's disease, and presenting no local reaction to imiquimod were considered as risk factors for a worse prognosis.
  • CONCLUSIONS: Our experience confirms imiquimod as an effective treatment option for several types of cutaneous tumors, especially in patients without the cutaneous comorbidities cited above and with low-risk tumors.

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  • [Cites] J Am Acad Dermatol. 1999 Dec;41(6):1002-7 [10570388.001]
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  • (PMID = 19841702.001).
  • [ISSN] 1980-5322
  • [Journal-full-title] Clinics (São Paulo, Brazil)
  • [ISO-abbreviation] Clinics (Sao Paulo)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Brazil
  • [Chemical-registry-number] 0 / Adjuvants, Immunologic; 0 / Aminoquinolines; 0 / Antineoplastic Agents; 99011-02-6 / imiquimod
  • [Other-IDs] NLM/ PMC2763070
  • [Keywords] NOTNLM ; Basal cell carcinoma / Imiquimod / Immunomodulator / Immunotherapy / Non-melanoma skin cancer
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45. 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. 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 / Receptors, Cell Surface; 0 / patched receptors
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46. Xie WH, Ren GX, Li SJ, Zhang J, Huang W, Guo W: [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome]. Zhonghua Kou Qiang Yi Xue Za Zhi; 2006 Oct;41(10):596-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome].
  • OBJECTIVE: To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.
  • CONCLUSIONS: In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Linkage. Receptors, Cell Surface / genetics

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  • (PMID = 17129446.001).
  • [ISSN] 1002-0098
  • [Journal-full-title] Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
  • [ISO-abbreviation] Zhonghua Kou Qiang Yi Xue Za Zhi
  • [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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47. Mosterd K, Sommer A, van Marion A, Lacko M, Herbergs J, de Bondt BJ, van Steensel MA, Kelleners-Smeets NW: Destructive basal cell carcinoma in a patient with basal cell nevus syndrome and an interstitial deletion of chromosome 9q22. Dermatol Surg; 2009 Dec;35(12):2051-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Destructive basal cell carcinoma in a patient with basal cell nevus syndrome and an interstitial deletion of chromosome 9q22.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / diagnosis. Chromosomes, Human, Pair 9 / genetics. Skin Neoplasms / diagnosis

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  • (PMID = 20050151.001).
  • [ISSN] 1524-4725
  • [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; Letter
  • [Publication-country] United States
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48. Alghamdi Y: Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family. Ann Saudi Med; 2008 Mar-Apr;28(2):132-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 18398273.001).
  • [ISSN] 0256-4947
  • [Journal-full-title] Annals of Saudi medicine
  • [ISO-abbreviation] Ann Saudi Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Saudi Arabia
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49. 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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50. 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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51. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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52. 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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53. 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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54. 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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  • [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 / epidemiology. Basal Cell Nevus Syndrome / radiography. Brain Diseases / epidemiology. Brain Diseases / radiography. Calcinosis / epidemiology. Calcinosis / radiography. Dura Mater / radiography


55. 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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56. 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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57. 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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58. 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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59. 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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60. 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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61. 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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62. 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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63. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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; 0 / PORCN protein, human
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64. De-Domingo B, González F, Lorenzo P: [Gorlin syndrome (nevoid basal cell carcinoma syndrome)]. Arch Soc Esp Oftalmol; 2008 May;83(5):321-4
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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 (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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65. 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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  • [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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66. 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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67. Karthiga KS, Sivapatha Sundharam B, Manikandan R: Nevoid basal cell carcinoma syndrome. Indian J Dent Res; 2006 Jan-Mar;17(1):50-3
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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.
  • 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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68. 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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  • [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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  • [Cites] Am Fam Physician. 2002 Jun 15;65(12):2501-4 [12086239.001]
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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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69. Ahmed N, Salman M, Mansoor MA: Gorlin-goltz syndrome. J Coll Physicians Surg Pak; 2007 Sep;17(9):568-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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70. 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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71. Lo Muzio L: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis; 2008;3:32
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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).
  • 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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72. 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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  • [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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73. 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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74. 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


75. 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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76. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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77. 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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78. 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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79. 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


80. 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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81. 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


82. 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
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  • [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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83. Patil K, Mahima VG, Gupta B: Gorlin syndrome: a case report. J Indian Soc Pedod Prev Dent; 2005 Oct-Dec;23(4):198-203
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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: 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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84. 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
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  • [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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85. 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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86. 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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87. 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
The Lens. Cited by Patents in .

  • [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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  • MedlinePlus Health Information. consumer health - Skin Cancer.
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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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88. 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
MedlinePlus Health Information. consumer health - Vulvar Cancer.

  • [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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89. 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
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 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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  • [ISO-abbreviation] BMC Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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  • [Other-IDs] NLM/ PMC2912266
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90. 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
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: 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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91. 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
SciCrunch. Clinical Genomic Database: Data: Gene Annotation .

  • [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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92. 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
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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93. 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
SciCrunch. KEGG: Data: Disease Annotation .

  • [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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94. Kohli M, Kohli M, Sharma N, Siddiqui SR, Tulsi SP: Gorlin-Goltz syndrome. Natl J Maxillofac Surg; 2010 Jan;1(1):50-2

  • [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 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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95. 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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96. 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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97. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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98. 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. Receptors, Cell Surface / genetics


99. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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100. 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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