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1. Cobourne MT, Xavier GM, Depew M, Hagan L, Sealby J, Webster Z, Sharpe PT: Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome. Dev Biol; 2009 Jul 01;331(1):38-49
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant or spontaneous disorder characterized by multiple cutaneous basal cell carcinomas, odontogenic keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate.
  • Causative mutations for NBCCS occur in the PTCH1 gene on chromosome 9q22.3-q31, which encodes the principle receptor for the Hedgehog signalling pathway.
  • We have investigated the molecular basis of craniofacial defects seen in NBCCS using a transgenic mouse model expressing Shh in basal epithelium under a Keratin-14 promoter.
  • Significantly, increased Hedgehog signal transduction in these mice can influence cell fate within the craniofacial region.
  • In contrast, high levels of Shh in odontogenic epithelium arrests tooth development at the bud stage, secondary to a lack of cell proliferation in this region.
  • These findings illustrate the importance of appropriately regulated Hedgehog signalling during early craniofacial development and demonstrate that oro-facial clefting and hypodontia seen in NBCCS can occur as a direct consequence of increased Shh signal activity within embryonic epithelial tissues.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Hedgehog Proteins / genetics. Tooth / growth & development
  • [MeSH-minor] Abnormalities, Multiple / genetics. Animals. Cell Death. Cell Division. Chromosome Mapping. Chromosomes, Human, Pair 9. Cleft Palate / genetics. DNA Primers. Disease Models, Animal. Humans. In Situ Hybridization. Keratin-14 / genetics. Medulloblastoma / pathology. Mice. Mice, Transgenic. Promoter Regions, Genetic

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  • (PMID = 19394325.001).
  • [ISSN] 1095-564X
  • [Journal-full-title] Developmental biology
  • [ISO-abbreviation] Dev. Biol.
  • [Language] eng
  • [Grant] United Kingdom / Medical Research Council / / MRC/ G0200709; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Hedgehog Proteins; 0 / Keratin-14; 0 / SHH protein, human; 0 / Shh protein, mouse
  • [Other-IDs] NLM/ PMC2696601
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2. Lo Muzio L: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis; 2008;3:32
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

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

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  • (PMID = 19032739.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 164
  • [Other-IDs] NLM/ PMC2607262
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3. Abe S, Kabashima K, Sakabe J, Shimauchi T, Yan Z, Okamoto T, Tokura Y: Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. Acta Derm Venereol; 2008;88(6):635-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Polymorphism, Single Nucleotide. Receptors, Cell Surface / genetics

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  • (PMID = 19002359.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Sweden
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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4. Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G: Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat; 2005 Mar;25(3):322-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
  • Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome).
  • Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently.
  • We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients.
  • Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene.
  • All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene.
  • We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]).
  • None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense. Frameshift Mutation. Mutation, Missense. Point Mutation. RNA Splice Sites / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 15712338.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / RNA Splice Sites; 0 / Receptors, Cell Surface; 0 / patched receptors
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5. Wallin JL, Tanna N, Misra S, Puri PK, Sadeghi N: Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. Am J Otolaryngol; 2007 Sep-Oct;28(5):360-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is associated with multiple basal cell carcinomas, odontogenic cysts, craniofacial anomalies, and childhood medulloblastomas.
  • METHODS: We present a 19-year-old man with NBCCS who presented with a sinonasal carcinoma 17 years after receiving craniospinal irradiation for treatment of medulloblastoma.
  • RESULTS: To our knowledge, this is the first report of a sinonasal tumor after irradiation in a patient with NBCCS.
  • CONCLUSIONS: With this case, the authors examine the genotype of NBCCS patients and their propensity for radiation-induced tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Neoplasms, Radiation-Induced / surgery. Paranasal Sinus Neoplasms / etiology. Paranasal Sinus Neoplasms / surgery. Radiotherapy / adverse effects

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  • (PMID = 17826543.001).
  • [ISSN] 0196-0709
  • [Journal-full-title] American journal of otolaryngology
  • [ISO-abbreviation] Am J Otolaryngol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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6. Xu LL, Li TJ: [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]. Beijing Da Xue Xue Bao; 2008 Feb 18;40(1):15-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].
  • OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs.
  • CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18278130.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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7. Shahmoradi Z, Andalib F, Siadat AH: Naevoid basal cell carcinoma syndrome. Indian J Dermatol Venereol Leprol; 2010 Jan-Feb;76(1):71-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Naevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / therapy

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  • (PMID = 20061742.001).
  • [ISSN] 0973-3922
  • [Journal-full-title] Indian journal of dermatology, venereology and leprology
  • [ISO-abbreviation] Indian J Dermatol Venereol Leprol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] India
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8. 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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9. 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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10. Chapas AM, Gilchrest BA: Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome. J Drugs Dermatol; 2006 Feb;5(2 Suppl):3-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome.
  • We report a case of a 73-year-old man with nevoid basal cell carcinoma syndrome who was referred to us with multiple basal cell carcinomas on his face and chest.
  • This treatment strategy resulted in multiple benefits, including reducing the number and size of his existing basal cell carcinomas, improving the appearance of previous surgical scars, and decreasing the rate of tumor development.
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Carcinoma, Basal Cell / drug therapy. Photochemotherapy / methods. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy

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  • (PMID = 16485873.001).
  • [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
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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11. Pribila JT, Ronan SM, Trobe JD: Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol; 2008 Mar;28(1):41-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome.
  • A 27-year-old man with nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) who had undergone craniospinal irradiation for a childhood brain stem medulloblastoma complained of progressive binocular visual loss.
  • Brain MRI demonstrated mass effect from multiple large meningiomas.
  • This is the sixth reported patient with NBCCS, medulloblastoma, and craniospinal radiation who has developed intracranial meningioma, further documenting the fact that such patients have a relatively high likelihood of developing meningiomas, especially multiple meningiomas.
  • Because patients with NBCCS are often mentally impaired and because papilledema can progress silently before causing irreversible visual loss, periodic ophthalmologic examination is advisable after craniospinal radiation.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Brain Neoplasms / complications. Meningioma / complications. Neoplasms, Multiple Primary / complications. Papilledema / etiology. Radiotherapy / adverse effects. Vision, Low / etiology
  • [MeSH-minor] Adult. Disease Progression. Humans. Intracranial Hypertension / etiology. Intracranial Hypertension / physiopathology. Magnetic Resonance Imaging. Male. Medulloblastoma / radiotherapy. Meninges / pathology. Neurosurgical Procedures. Optic Disk / pathology. Optic Disk / physiopathology. Retina / pathology. Retina / physiopathology. Treatment Outcome


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

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  • (PMID = 15840155.001).
  • [ISSN] 0305-1862
  • [Journal-full-title] Child: care, health and development
  • [ISO-abbreviation] Child Care Health Dev
  • [Language] eng
  • [Grant] Italy / Telethon / / TI/ GTF04003
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense
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13. Schweiger ES, Kwasniak L, Tonkovic-Capin V: A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature. J Drugs Dermatol; 2010 Feb;9(2):167-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder characterized by multiple basal cell carcinomas (BCCs) in addition to skeletal abnormalities and other neoplasms.
  • The authors report a case of a patient with NBCCS treated successfully with photodynamic therapy (PDT) using 20% 5-aminolevulinc acid and blue light.
  • The authors also review the literature and summarize past case reports and series using PDT to treat patient with NBCCS.
  • Based on their experience and the reports of others, the authors assert that PDT should become the first-line therapy in the treatment of multiple BCCs in patients with NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy. Skin Neoplasms / drug therapy

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  • (PMID = 20214182.001).
  • [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; Review
  • [Publication-country] United States
  • [Number-of-references] 11
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14. Motegi S, Nagai Y, Tamura A, Ishikawa O: Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature. Dermatology; 2008;216(2):159-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature.
  • We report a 72-year-old man with nevoid basal cell carcinoma syndrome (NBCCS) who presented with 25 skin cysts on his trunk and extremities.
  • Fourteen of 25 skin cysts (56%) were observed on his hands.
  • Histological examination demonstrated that most of the excised cysts had an epithelial wall with typical epidermal keratinization.
  • However, 4 skin cysts (4/16; 25%) showed a corrugated or festooned inner surface of wall without a granular cell layer, which resembled an odontogenic keratocyst, a characteristic feature of skin cysts in NBCCS.
  • A review of the literature suggested that acral localization of skin cysts is a distinctive feature of NBCCS.
  • In addition, the histological findings of skin cysts resembling an odontogenic keratocyst might be a hallmark of NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Cysts / complications. Skin Neoplasms / complications
  • [MeSH-minor] Aged. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Skin Diseases / complications. Skin Diseases / diagnosis


15. Bhattacharjee P, Leffell D, McNiff JM: Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome. J Cutan Pathol; 2005 Oct;32(9):638-41
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant disorder characterized by developmental abnormalities and neoplasms including basal cell carcinoma (BCC) and sarcomas (i.e. leiomyosarcoma, rhabdomyosarcoma, and fibrosarcoma).
  • Primary cutaneous carcinosarcoma (PCC), a rare tumor composed of malignant epithelial and mesenchymal components, has never been previously described in association with this syndrome.
  • CASE REPORT: A 61-year-old Hispanic man with a history of NBCC presented with a 4 cm nodule on the right proximal medial thigh.
  • PATHOLOGIC FINDINGS: Areas of typical BCC merged with intersecting fascicles of large atypical spindle cells that stained for vimentin and were negative for actin, desmin, CD-34, and S-100 protein.
  • CONCLUSIONS: Several carcinosarcomas have been reported to contain BCC as the malignant epithelial component, but to our knowledge, this is the first report of PCC associated with NBCC.
  • Mutation in patched tumor suppressor gene on chromosome 9q occurs in BCCs of NBCC, and aberrancies on chromosome 9q are also reported in some carcinosarcomas.
  • Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinosarcoma / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology

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  • (PMID = 16176303.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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16. Lam EW, Lee L, Perschbacher SE, Pharoah MJ: The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome. Dentomaxillofac Radiol; 2009 Oct;38(7):475-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome.
  • OBJECTIVES: This retrospective study reviews the occurrence of keratocystic odontogenic tumours (KOTs) in nevoid basal cell carcinoma syndrome (NBCCS) patients seen in the Oral and Maxillofacial Radiology Special Procedures Clinic in the Faculty of Dentistry at the University of Toronto.
  • METHODS: This study examines the number and radiographic features of KOTs identified in 11 NBCCS patients who presented with 43 KOTs between January 1989 and 30 June 2007 on plain film radiographs and CT.
  • CONCLUSIONS: Our results suggest that there should be early and frequent monitoring of NBCCS patients for the development of KOTs in youth and adolescence, and that CT imaging should play an important role in these investigations.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Odontogenic Tumors / pathology

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  • (PMID = 19767519.001).
  • [ISSN] 0250-832X
  • [Journal-full-title] Dento maxillo facial radiology
  • [ISO-abbreviation] Dentomaxillofac Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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17. Jirakulaporn T, Mathew J, Lindgren BR, Dudek AZ: Efficacy of capecitabine in secondary prevention of skin cancer in solid organ-transplanted recipients (OTR). J Clin Oncol; 2009 May 20;27(15_suppl):1519

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Topical 5% 5-FU has been used to successfully treat squamous cell carcinoma (SCC) in situ and actinic keratosis (AK).
  • METHODS: OTR who developed recurrent skin cancers, SCC, and/or basal cell carcinoma (BCC), were given low-dose capecitabine 1g/m2 divided in two daily doses, day 1-14 of 21-day treatment cycle.
  • Cumulative incidence rates of SCC, BCC, and AK before and after treatment were scored and statistically compared for each patient with a non-parametric Wilcoxon signed-rank test.
  • RESULTS: 14 patients (12 males and 2 females) were enrolled with median age of 55 (range 40-73).
  • Mean incidence rates of SCC, BCC, and AK before treatment were 0.45, 0.05, and 4.99 lesions per month, respectively.
  • Mean incidence rates of SCC, BCC, and AK after treatment were 0.22, 0.04, and 2.80 lesions per month, respectively.
  • The differences in incidence rates of SCC, BCC, and AK before and after treatment were 0.24, 0.02, and 2.08 lesions per month with p value of 0.048, 0.844, and 0.151, respectively.
  • Six of the total of 14 patients experienced grade 3/4 toxicities, including mucositis (2), hand-foot syndrome (3), fatigue (2), nausea (1), diarrhea (2), hyperuricemia (1), and anemia (1), and all six needed capecitabine dose reduction or stopping therapy.

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  • (PMID = 27964327.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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18. Habibi A, Jafarzadeh H: Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008). J Oral Pathol Med; 2010 Oct;39(9):677-80
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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: a 17-year study of 19 cases in Iranian population (1991-2008).
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant disorder with a wide range of clinical signs and symptoms.
  • The major criteria are more than two basal cell carcinoma, keratocystic odontogenic tumor, three or more palmar pits, and calcification of the falx cerebri, spine and rib anomalies, and a family history of the syndrome.
  • METHODS: This study reports 19 cases in an Iranian population and presents this rare syndrome as a differential diagnosis of skeletal anomalies.
  • Between 1991 and 2008, the demographic, clinical, radiologic and histologic data of 19 patients with NBCCS were analyzed.
  • RESULTS: The average age at the time of diagnosis of NBCCS was 35.12 years.
  • The major criteria with the most frequency were the keratocysts odontogenic tumor (19 patients), and the average number was 6.2.
  • Basal cell carcinoma (8 patients), and the average number was 14.7 calcification of the falx cerebri (17 patients), palmo-plantar pits (14 patients), mild hypertelorism (10 patients), and bilateral cleft lip and palate (1 patient).
  • Only one patient was affected with an unusual case of NBCCS in a 30-year-old man with an associated squamous cell carcinoma of the maxillary sinus.
  • This case is one of a large family including 14 NBCCS-affected patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Aged, 80 and over. Calcinosis / pathology. Child. Diagnosis, Differential. Dura Mater / pathology. Female. Humans. Iran. Longitudinal Studies. Male. Middle Aged. Odontogenic Tumors / pathology. Young Adult

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20456618.001).
  • [ISSN] 1600-0714
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
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19. Lü Y, Zhu HG, Ye WM, Zhang MB, He D, Chen WT: A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. Chin Med J (Engl); 2008 Jan 20;121(2):118-21
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] A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.
  • Mutation of patched gene (PTCH), considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study.
  • CONCLUSIONS: Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 18272036.001).
  • [ISSN] 0366-6999
  • [Journal-full-title] Chinese medical journal
  • [ISO-abbreviation] Chin. Med. J.
  • [Language] eng
  • [Publication-type] 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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20. van der Geer S, Krekels GA, Verhaegh ME: Treatment of the patient with nevoid basal cell carcinoma syndrome in a megasession. Dermatol Surg; 2009 Apr;35(4):709-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of the patient with nevoid basal cell carcinoma syndrome in a megasession.
  • [MeSH-major] Basal Cell Nevus Syndrome / surgery. Mohs Surgery / methods

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  • (PMID = 19400888.001).
  • [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
  • [Publication-country] United States
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21. Habibi A, Jafarzadeh H: Squamous cell carcinoma of the maxillary sinus associated with nevoid basal cell carcinoma syndrome: report of a case with 21-year evaluation. J Oral Maxillofac Surg; 2010 Aug;68(8):1982-6
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] Squamous cell carcinoma of the maxillary sinus associated with nevoid basal cell carcinoma syndrome: report of a case with 21-year evaluation.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Carcinoma, Squamous Cell / complications. Maxillary Sinus Neoplasms / complications
  • [MeSH-minor] Child. Humans. Male. Maxillary Neoplasms / complications. Maxillary Neoplasms / pathology. Maxillary Neoplasms / radiography. Odontogenic Tumors / complications. Odontogenic Tumors / pathology. Odontogenic Tumors / radiography. Tomography, X-Ray Computed

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  • (PMID = 20452113.001).
  • [ISSN] 1531-5053
  • [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] Case Reports; Journal Article
  • [Publication-country] United States
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22. Nakamura M, Tokura Y: A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome. Eur J Dermatol; 2009 May-Jun;19(3):262-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation, Missense. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics

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  • (PMID = 19213655.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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23. Otsubo S, Honma M, Asano K, Takahashi H, Iizuka H: A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma? J Dermatol Sci; 2008 Aug;51(2):144-6
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] A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics

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  • (PMID = 18436435.001).
  • [ISSN] 0923-1811
  • [Journal-full-title] Journal of dermatological science
  • [ISO-abbreviation] J. Dermatol. Sci.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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24. Visioli F, Martins CA, Heitz C, Rados PV, Sant'Ana Filho M: Is nevoid basal cell carcinoma syndrome really so rare? Proposal for an investigative protocol based on a case series. J Oral Maxillofac Surg; 2010 Apr;68(4):903-8
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Is nevoid basal cell carcinoma syndrome really so rare? Proposal for an investigative protocol based on a case series.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / epidemiology. Mandibular Neoplasms / diagnosis. Odontogenic Tumors / diagnosis

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  • (PMID = 20307772.001).
  • [ISSN] 1531-5053
  • [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] Case Reports; Journal Article
  • [Publication-country] United States
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25. Lee YW, Roh BH, Ki CS, Park YL, Shin HB, Lee YK, Choi TY, Whang KU: Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. Clin Exp Dermatol; 2007 Mar;32(2):202-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Germ-Line Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 16780502.001).
  • [ISSN] 0307-6938
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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26. Klein RD, Dykas DJ, Bale AE: Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med; 2005 Nov-Dec;7(9):611-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
  • PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene.
  • There were 11 nonsense mutations; 1 in-frame deletion; 17 deletions, 6 insertions, and 1 deletion-insertion that generated frameshifts; 5 splice-site mutations; 1 in-frame duplication; and 2 presumptive missense mutations.
  • Twenty-seven of 46 pedigrees (58.7%) with two or more typical radiographic or pathologic features of NBCCS tested positive for PTCH mutations.
  • Of these, 26 had jaw cysts in combination with other characteristics or neoplasms including basal cell carcinomas, palmar pits, skeletal abnormalities, ocular abnormalities, medulloblastomas, cardiac or ovarian fibromas, calcification of the falx cerebri, polydactyly, cleft lip and/or palate, and agenesis of the corpus callosum or other central nervous system malformations.
  • None of the 13 pedigrees solely affected by multiple or early-onset basal cell carcinomas and none of the four pedigrees with jaw cysts alone had PTCH mutations.
  • CONCLUSIONS: Pedigrees with multiple features of NBCCS were most likely to test positive for PTCH mutations.
  • Pedigrees with multiple or early-onset basal cell carcinomas without other features of the disease did not test positive for PTCH mutations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Testing / statistics & numerical data. Receptors, Cell Surface / genetics

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  • (PMID = 16301862.001).
  • [ISSN] 1098-3600
  • [Journal-full-title] Genetics in medicine : official journal of the American College of Medical Genetics
  • [ISO-abbreviation] Genet. Med.
  • [Language] eng
  • [Grant] United States / NIGMS NIH HHS / GM / 5T32GM008753; United States / NCI NIH HHS / CA / R01CA93908
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Receptors, Cell Surface; 0 / patched receptors
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27. Tachi N, Fujii K, Kimura M, Seki K, Hirakai M, Miyashita T: New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. Pediatr Neurol; 2007 Nov;37(5):363-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
  • Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation.
  • A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported.
  • We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome.
  • This mutation was not found in previously described patients with nevoid basal-cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Brain Neoplasms / genetics. Mutation / genetics. Receptors, Cell Surface / genetics. Spasms, Infantile / genetics

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  • (PMID = 17950424.001).
  • [ISSN] 0887-8994
  • [Journal-full-title] Pediatric neurology
  • [ISO-abbreviation] Pediatr. Neurol.
  • [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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28. Shand JM, Heggie AA: Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome. Oral Maxillofac Surg Clin North Am; 2005 Nov;17(4):403-14

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome.
  • Cysts of the jaws are a relatively commonly encountered pathologic condition, and a full spectrum of these lesions may present in pediatric patients.
  • Most cystic lesions are of odontogenic origin, as seen in adult patients, and a range of surgical approaches are available for their management.

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  • (PMID = 18088795.001).
  • [ISSN] 1042-3699
  • [Journal-full-title] Oral and maxillofacial surgery clinics of North America
  • [ISO-abbreviation] Oral Maxillofac Surg Clin North Am
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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29. Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS: PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. Oral Dis; 2008 Mar;14(2):174-9
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
  • OBJECTIVES: PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome.
  • The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.
  • MATERIALS AND METHODS: DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).
  • Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A>T) were detected in three unrelated patients with syndrome.
  • The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).
  • CONCLUSION: The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18302678.001).
  • [ISSN] 1354-523X
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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30. Grgic A, Aliani S, Dill-Mueller D, Heinrich M, Heckmann M, Kramann B, Uder M: [Nevoid basal cell carcinoma syndrome]. Rontgenpraxis; 2005;56(1):29-36
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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].
  • [Transliterated title] Naevoid Basalzellkarzinom-syndrom.
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies.
  • The combination of clinical, imaging, and histological findings is helpful in identifying NBCCS patients.
  • We present a wide variety of clinical and radiological findings characteristic of this disease.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Basal Cell Nevus Syndrome / radiography

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  • (PMID = 16218525.001).
  • [ISSN] 0035-7820
  • [Journal-full-title] Röntgenpraxis; Zeitschrift für radiologische Technik
  • [ISO-abbreviation] Rontgenpraxis
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 11
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31. 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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32. Bossert T, Walther T, Vondrys D, Gummert JF, Kostelka M, Mohr FW: Cardiac fibroma as an inherited manifestation of nevoid basal-cell carcinoma syndrome. Tex Heart Inst J; 2006;33(1):88-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cardiac fibroma as an inherited manifestation of nevoid basal-cell carcinoma syndrome.
  • The 30-year-old mother was known to have nevoid basal-cell carcinoma syndrome, which can be associated with cardiac fibromas.

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  • [Cites] Ann Thorac Surg. 2001 Apr;71(4):1354-6 [11308193.001]
  • [Cites] Ann Thorac Surg. 2003 Apr;75(4):1306-8 [12683582.001]
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  • (PMID = 16572881.001).
  • [ISSN] 0730-2347
  • [Journal-full-title] Texas Heart Institute journal
  • [ISO-abbreviation] Tex Heart Inst J
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC1413607
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33. Katase N, Nagatsuka H, Tsujigiwa H, Gunduz M, Tamamura R, Pwint HP, Rivera RS, Nakajima M, Naomoto Y, Nagai N: Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor. J Oral Pathol Med; 2007 Oct;36(9):550-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor.
  • BACKGROUND: Keratocystic odontogenic tumor (KCOT), also known as odontogenic keratocyst, is a benign cystic neoplasm, which may be associated with nevoid basal cell carcinoma syndrome (NBCCS) and if it does, will occur as multiple cystic lesions.
  • Heparanase is an endo-d-glucuronidase enzyme that specifically cleaves heparan sulfate (HS) and the increase of its level in tumors promotes invasion, angiogenesis, and metastasis.
  • METHODS: To investigate the neoplastic character of KCOT, we studied the localization patterns of heparanase in KCOT, focusing on the differences between sporadic and NBCCS-associated KCOTs, by immunohistochemistry and in situ hybridization.
  • To compare the expression pattern of these cysts with non-tumorous odontogenic developmental cyst, dentigerous cyst was included.
  • RESULTS: All the odontogenic cysts showed positive immunoreaction for heparanase protein in various intensities.
  • Interestingly, intense gene and protein expressions were observed in KCOT associated with NBCCS compared with sporadic ones and dentigerous cyst.
  • CONCLUSIONS: The results implied that heparanase expression may be correlated with the neoplastic properties of KCOT, particularly in NBCCS-associated cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / enzymology. Glucuronidase / biosynthesis. Odontogenic Cysts / enzymology. Odontogenic Tumors / enzymology

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  • (PMID = 17850439.001).
  • [ISSN] 0904-2512
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Heparan Sulfate Proteoglycans; EC 3.2.1.- / heparanase; EC 3.2.1.31 / Glucuronidase
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34. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, Nishigori C, Iizuka T: Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res; 2005 Jan;296(7):303-8
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
  • We identified seven novel germline mutations of the PTCH gene in eight unrelated Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS).
  • In order to ensure genetic diagnosis, all 23 coding exons of the PTCH gene were amplified from genomic DNA by polymerase chain reaction (PCR) and sequenced.
  • Mutations were found in all eight patients with NBCCS.
  • No phenotype-genotype relationships were found in the Japanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15565302.001).
  • [ISSN] 0340-3696
  • [Journal-full-title] Archives of dermatological research
  • [ISO-abbreviation] Arch. Dermatol. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
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35. van der Geer S, Ostertag JU, Krekels GA: Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. J Eur Acad Dermatol Venereol; 2009 Mar;23(3):308-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple basal cell carcinomas (BCCs).
  • There is no evidence based advice how to treat a NBCCS patient.
  • OBJECTIVE: To give a review of the literature about the possible treatment modalities for the multiple BCCs in NBCCS patients.
  • RESULTS: Literature consists mainly of case reports; no evidence based advice how to treat a NBCCS patient exists.
  • Multiple treatments are available (surgical and non-surgical), and a lot of them can be combined.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / therapy

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  • (PMID = 19207641.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Aminoquinolines; 99011-02-6 / imiquimod
  • [Number-of-references] 51
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36. Figueroa A, Correnti M, Avila M, Andea A, DeVilliers P, Rivera H: Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type? Otolaryngol Head Neck Surg; 2010 Feb;142(2):179-83
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type?
  • OBJECTIVE: The objective of this study was to analyze the expression of proliferative markers and p53 in keratocystic odontogenic tumor (KCOT) sporadic type and KCOT associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • SUBJECTS AND METHODS: Twelve cases corresponded to sporadic KCOT, and seven cases were associated with NBCCS.
  • Immunohistochemical analysis for p53, proliferating cell nuclear antigen (PCNA), and Ki-67 was performed in all 19 cases.
  • RESULTS: Of the seven cases associated with NBCCS, six (86%) were positive for PCNA.
  • Five of 12 (42%) cases of sporadic KCOT were positive for p53, and only one (14%) case associated with NBCCS was positive for p53.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Basal Cell Nevus Syndrome / pathology. Biomarkers, Tumor / analysis. Odontogenic Cysts / metabolism. Odontogenic Cysts / pathology
  • [MeSH-minor] Cross-Sectional Studies. Humans. Immunohistochemistry. Ki-67 Antigen / analysis. Neoplasm Invasiveness. Proliferating Cell Nuclear Antigen / analysis. Tumor Suppressor Protein p53 / analysis

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  • [Copyright] Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.
  • (PMID = 20115971.001).
  • [ISSN] 1097-6817
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Ki-67 Antigen; 0 / Proliferating Cell Nuclear Antigen; 0 / Tumor Suppressor Protein p53
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37. Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z: Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol; 2006;27(4):175-80
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

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

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  • [Copyright] Copyright 2006 S. Karger AG, Basel.
  • (PMID = 16675912.001).
  • [ISSN] 1010-4283
  • [Journal-full-title] Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
  • [ISO-abbreviation] Tumour Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 9007-49-2 / DNA
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38. Li J, Wang J, Liu Y, Wang W: Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome. Mol Biol Rep; 2010 Jan;37(1):359-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome.
  • Abnormalities in sonic hedgehog (SHH) signaling pathway components are major contributing factors in the development of nevoid basal cell carcinoma syndromes (NBCCS) that include SHH, PTCH, SMO and GLI.
  • The novel patched homologue (PTCH) mutation and clinical manifestations with NBCCS links PTCH haplosufficiency and aberrant activation of the sonic hedgehog/Patched/smoothened pathway.
  • To investigate further the molecular genetics of NBCCS, we performed mutation analysis of PTCH gene in a family case with five affected members.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Exons / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19728145.001).
  • [ISSN] 1573-4978
  • [Journal-full-title] Molecular biology reports
  • [ISO-abbreviation] Mol. Biol. Rep.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / GLI1 protein, human; 0 / Receptors, Cell Surface; 0 / Transcription Factors; 0 / patched receptors
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39. de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K: Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet; 2009 Mar-Jun;52(2-3):145-7
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
  • We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age.
  • These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof.
  • [MeSH-minor] Abnormalities, Multiple / genetics. Carcinoma, Basal Cell / genetics. Humans. Infant. Intellectual Disability. Male. Motor Skills Disorders. Receptors, Cell Surface / genetics. Speech Disorders. Syndrome

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  • (PMID = 19233320.001).
  • [ISSN] 1878-0849
  • [Journal-full-title] European journal of medical genetics
  • [ISO-abbreviation] Eur J Med Genet
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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40. Wang W, Wang J, Li J, Mao L, Guo F, Zhang B: New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome. Br J Oral Maxillofac Surg; 2009 Jul;47(5):366-9

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

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  • (PMID = 19008023.001).
  • [ISSN] 1532-1940
  • [Journal-full-title] The British journal of oral & maxillofacial surgery
  • [ISO-abbreviation] Br J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Proteins; 0 / patched receptors; 8J337D1HZY / Cytosine; JAC85A2161 / Adenine; QR26YLT7LT / Thymine
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41. Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B: PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer; 2006 Aug 21;95(4):548-53
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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 and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
  • The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%.
  • However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has been suggested that PTCH polymorphisms could predispose to multiple BCC (MBCC).
  • In this study, we therefore performed an exhaustive analysis of PTCH (mutations detection and deletion analysis) in 17 patients with the full complement of criteria for NBCCS (14 sporadic and three familial cases), and in 48 patients suspected of having a genetic predisposition to BCC (MBCC and/or age at diagnosis < or =40 years and/or familial BCC).
  • Eleven new germline alterations of the PTCH gene were characterised in 12 out of 17 patients harbouring the full complement of criteria for the syndrome (70%).
  • Only one missense mutation (G774R) was found, and this was in a patient affected with MBCC, but without any other NBCCS criterion.
  • We therefore suggest that patients harbouring the full complement of NBCCS criteria should as a priority be screened for PTCH mutations by sequencing, followed by a deletion analysis if no mutation is detected.
  • In other clinical situations that suggest genetic predisposition to BCC, germline mutations of PTCH are not common.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gene Deletion. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics
  • [MeSH-minor] France. Genetic Predisposition to Disease. Humans. Microsatellite Repeats

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  • (PMID = 16909134.001).
  • [ISSN] 0007-0920
  • [Journal-full-title] British journal of cancer
  • [ISO-abbreviation] Br. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2360669
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42. Zhou SH, Li LL, Jian XC, Jiang CH: [A case of nevoid basal cell carcinoma syndrome family]. Hua Xi Kou Qiang Yi Xue Za Zhi; 2008 Feb;26(1):109-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [A case of nevoid basal cell carcinoma syndrome family].
  • Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis.
  • In this paper, a case of nevoid basal cell carcinoma syndrome family was reported, and its incidence, pathogenesis, clinical features and methods of treatment were discussed by reviewing relevant literatures.
  • [MeSH-major] Basal Cell Nevus Syndrome

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  • (PMID = 18357899.001).
  • [ISSN] 1000-1182
  • [Journal-full-title] Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
  • [ISO-abbreviation] Hua Xi Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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43. Ackerman AB: Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome. J Cutan Pathol; 2009 May;36(5):603; author reply 604
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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 versus generalized basaloid follicular hamartoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Hamartoma Syndrome, Multiple / pathology. Skin Neoplasms / pathology


44. Kassem A, Pantulu D, Technau K, Kurz AK, Diaz C, Hörster S, Nashan D, Weyers W, Zur Hausen A: Merkel cell polyomavirus in naevoid basal cell carcinoma syndrome-associated basal cell carcinomas and sporadic trichoblastomas. J Dermatol Sci; 2010 Aug;59(2):140-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Merkel cell polyomavirus in naevoid basal cell carcinoma syndrome-associated basal cell carcinomas and sporadic trichoblastomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Carcinoma, Merkel Cell / genetics. DNA, Neoplasm / genetics. DNA, Viral / genetics. Polyomavirus / genetics. Skin Neoplasms / genetics

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  • (PMID = 20654786.001).
  • [ISSN] 1873-569X
  • [Journal-full-title] Journal of dermatological science
  • [ISO-abbreviation] J. Dermatol. Sci.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / DNA, Viral
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45. Cassarino DS, Linden KG, Barr RJ: Cutaneous keratocyst arising independently of the nevoid basal cell carcinoma syndrome. Am J Dermatopathol; 2005 Apr;27(2):177-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cutaneous keratocyst arising independently of the nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Epidermal Cyst / pathology. Skin Diseases / pathology
  • [MeSH-minor] Diagnosis, Differential. Humans. Keratins / metabolism. Leg / pathology. Male. Middle Aged

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  • (PMID = 15798450.001).
  • [ISSN] 0193-1091
  • [Journal-full-title] The American Journal of dermatopathology
  • [ISO-abbreviation] Am J Dermatopathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 68238-35-7 / Keratins
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46. Choudry Q, Patel HC, Gurusinghe NT, Evans DG: Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst; 2007 Jan;23(1):133-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance.
  • INTRODUCTION: We report two cases of radiation-induced intracranial tumours after treatment for medulloblastoma presenting in children with nevoid basal cell carcinoma syndrome.
  • DISCUSSION: These cases illustrate the need for judicious use of post-operative radiotherapy as secondary tumors are commonly reported.
  • [MeSH-minor] Adolescent. Adult. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / physiopathology. Female. Humans. Infant. Male

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  • (PMID = 16977487.001).
  • [ISSN] 0256-7040
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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47. Sobota A, Pena M, Santi M, Ali Ahmed A: Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome. Int J Surg Pathol; 2007 Jul;15(3):303-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome is an autosomal dominant multisystem disorder characterized by developmental anomalies and occurrence of multiple basal cell carcinomas and other tumors in early childhood.
  • In this article, the authors report a case of a 19-year-old African American male with nevoid basal cell carcinoma syndrome and a history of medulloblastoma at age 2, meningioma at age 14, thyroid follicular adenomas with papillary carcinoma at age 15, and 2 basal cell carcinomas at ages 16 and 18.
  • Recently, he developed sinonasal undifferentiated carcinoma (SNUC).
  • The radiology and pathology of the sinonasal carcinoma are presented in this report.
  • Review of the literature reveals that this is the first case of SNUC occurring in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Carcinoma / etiology. Nose Neoplasms / etiology


48. Rao S, Arulselvi S, Gupta K, Arora R, Shrivastava D: Nevoid basal cell carcinoma syndrome (Gorlin's syndrome): a case report. Indian J Pathol Microbiol; 2006 Oct;49(4):578-80
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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's syndrome): a case report.
  • A case of nevoid basal cell carcinoma syndrome is presented and its varied clinical manifestations and multi-system involvement are emphasised.
  • Our case presented with an early onset of symptoms but sought medical help later on for progressively increasing jaw swelling and pain.
  • On further evaluation, multiple pigmented skin papules, palmar pits, multiple jaw cysts, skull bone osteoporosis, bifid ribs and kyphosis were present.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology
  • [MeSH-minor] Adolescent. Humans. Jaw Cysts / pathology. Male. Skin Neoplasms / pathology

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  • (PMID = 17183862.001).
  • [ISSN] 0377-4929
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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49. Baliga SD, Rao SS: Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management. J Maxillofac Oral Surg; 2010 Mar;9(1):82-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management.
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a rare condition characterized by varied clinical manifestations like multiple Basal Cell Carcinomas (BCC), multiple Keratocystic Odontogenic Tumours (KCOT), palmar and/or plantar pits and ectopic calcification of the falx cerebri, which are considered as the major criteria for diagnosis.
  • The occurrence of jaw manifestations makes it an important diagnostic problem for oral and maxillofacial surgeons and often clinicians encounter this aspect which finally leads to the diagnosis of this syndrome.
  • This paper reports a case of NBCCS and provides an overview on the diagnosis and management of this enigmatic entity.

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  • (PMID = 23139577.001).
  • [ISSN] 0972-8279
  • [Journal-full-title] Journal of maxillofacial and oral surgery
  • [ISO-abbreviation] J Maxillofac Oral Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3453702
  • [Keywords] NOTNLM ; Gorlin-Goltz syndrome / Keratocystic odontogenic tumour / Nevoid basal cell carcinoma syndrome
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50. 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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  • [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


51. Sugaya S, Nakanishi H, Tanzawa H, Sugita K, Kita K, Suzuki N: Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells. Mutat Res; 2005 Oct 15;578(1-2):327-32
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  • [Title] Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells.
  • Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation.
  • Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells.
  • This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells.
  • In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A.
  • Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. DNA, Neoplasm / biosynthesis. Down-Regulation / radiation effects. Gene Expression Regulation, Neoplastic / radiation effects. Ubiquitins / metabolism. X-Rays
  • [MeSH-minor] Cell Line, Tumor. Ethidium / metabolism. Fibroblasts / metabolism. Fibroblasts / radiation effects. Flow Cytometry. Humans. Kinetics. Oligonucleotides, Antisense / pharmacology. RNA, Messenger / analysis. Reverse Transcriptase Polymerase Chain Reaction. Sequence Analysis, DNA. Transcription, Genetic

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  • (PMID = 16154602.001).
  • [ISSN] 0027-5107
  • [Journal-full-title] Mutation research
  • [ISO-abbreviation] Mutat. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Oligonucleotides, Antisense; 0 / RNA, Messenger; 0 / SUMO3 protein, human; 0 / Ubiquitins; EN464416SI / Ethidium
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52. Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, Bellnier DA: Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol; 2005 Jan;141(1):60-7
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  • [Title] Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy.
  • OBJECTIVE: To report the use of wide-area 5-aminolevulinic acid photodynamic therapy to treat numerous basal cell carcinomas (BCCs) and basaloid follicular hamartomas (BFHs).
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Basal Cell Nevus Syndrome / drug therapy. Hamartoma Syndrome, Multiple / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy

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  • (PMID = 15655143.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA16056; United States / NCI NIH HHS / CA / P01-CA55791
  • [Publication-type] Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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53. 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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54. Balasundram S, Kovilpillai FJ, Hopper C: Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches. J Clin Pediatr Dent; 2010;35(1):95-100
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  • [Title] Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.
  • BACKGROUND: A 10- year-old patient presented with a slow growing jaw swelling.
  • METHODS: Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst.
  • These cysts were enucleated and were confirmed to be odontogenic keratocysts .
  • The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars.
  • RESULTS: Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome.
  • The family history was negative for features of nevoid basal cell carcinoma syndrome.
  • CONCLUSION: Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early.
  • Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Cafe-au-Lait Spots / diagnosis. Neck / pathology. Skin Abnormalities / diagnosis
  • [MeSH-minor] Child. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Mandibular Diseases / diagnosis. Maxillary Diseases / diagnosis. Odontogenic Cysts / diagnosis. Recurrence. Ribs / abnormalities

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  • (PMID = 21189772.001).
  • [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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55. Ramaglia L, Morgese F, Pighetti M, Saviano R: Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 Aug;102(2):217-9
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  • [Title] Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review.
  • Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri.
  • More than 100 minor criteria have been described, but 2 major and 1 minor criteria or 1 major and 3 minor criteria are necessary for the diagnosis.
  • In this report we present an 8-year-old girl affected by NBCCS showing a uterus bicornis, a hitherto unreported association.
  • However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Child. Chromosomes, Human, Pair 9. Craniofacial Abnormalities / pathology. Female. Humans. Mandibular Diseases / pathology. Mullerian Ducts / abnormalities. Odontogenic Cysts / pathology. Uterus / abnormalities

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  • (PMID = 16876065.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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56. Mohtasham N, Nemati S, Jamshidi S, Habibi A, Johari M: Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report. Cases J; 2009;2:9399

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  • [Title] Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report.
  • Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts.
  • Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome.
  • He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing and hypertelorism.
  • Characteristic cutaneous manifestation (nevoid basal cell carcinoma) was not present in this patient.
  • The jaw cysts were treated with marsupialization then enucleation.
  • The dental clinician may be the first to encounter and identify this syndrome, when the multiple cystlike radiolucencies are discovered on panoramic view.

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  • [Cites] Anticancer Res. 2007 Jul-Aug;27(4A):1783-7 [17649773.001]
  • [Cites] Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996 Feb;81(2):217-20 [8665318.001]
  • (PMID = 20111613.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2813242
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57. 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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58. Madan V, Loncaster J, Allan D, Lear J, Sheridan L, Leach C, Allan E: Systemic photodynamic therapy with Photofrin for naevoid basal cell carcinoma syndrome-A pilot study. Photodiagnosis Photodyn Ther; 2005 Dec;2(4):273-81

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  • [Title] Systemic photodynamic therapy with Photofrin for naevoid basal cell carcinoma syndrome-A pilot study.
  • BACKGROUND: Treatment of basal cell carcinomas in naevoid basal cell carcinoma syndrome (NBCCS) poses several challenges.
  • Topical photodynamic therapy (PDT) with δ-5-amino levulinic acid has increasingly been recognised as and safe and effective choice in the treatment of BCC.
  • The probability of local control of BCC treated by PDT depends strongly on lesion thickness, thick nodular lesions being less responsive.
  • METHOD: We used systemic photodynamic therapy with Porfimer Sodium (Photofrin(®), Axcan Pharma Inc., Quebec, Canada), a systemic photosensitizer for treating multiple BCC in seven patients with NBCCS.
  • RESULTS: There was a substantial reduction in the number of superficial basal cell carcinomas with complete US regression after one treatment.
  • CONCLUSIONS: Our preliminary results indicate that systemic photodynamic therapy using Photofrin and external light either alone or with interstitial optical diffuser fibres; may be effective in treatment of multiple, thick and nodular BCC lesions in Naevoid basal cell carcinoma syndrome.

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  • (PMID = 25048869.001).
  • [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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59. Lee DA, Grossman ME, Schneiderman P, Celebi JT: Genetics of skin appendage neoplasms and related syndromes. J Med Genet; 2005 Nov;42(11):811-9
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  • [Title] Genetics of skin appendage neoplasms and related syndromes.
  • In the past decade the molecular basis of many inherited syndromes has been unravelled.
  • This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

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  • (PMID = 16272260.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / K08 AR050273
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
  • [Publication-country] England
  • [Number-of-references] 95
  • [Other-IDs] NLM/ PMC1735949
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60. Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J: Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. Eur J Med Genet; 2008 Sep-Oct;51(5):472-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
  • We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations.
  • MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.
  • This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Corpus Callosum / pathology. Craniofacial Abnormalities / diagnosis. Craniofacial Abnormalities / genetics. Exons. Family Health. Female. Gene Deletion. Humans. Mutation. Pedigree. Pregnancy. Prenatal Diagnosis. Receptor, Melanocortin, Type 1 / genetics. Receptors, Cell Surface / genetics. Saint Kitts and Nevis

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  • (PMID = 18539553.001).
  • [ISSN] 1769-7212
  • [Journal-full-title] European journal of medical genetics
  • [ISO-abbreviation] Eur J Med Genet
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / patched receptors
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61. Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T: Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations. J Hum Genet; 2009 Jul;54(7):398-402
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  • [Title] Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria.
  • To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Cleft Lip / complications. Cleft Palate / complications. Genetic Predisposition to Disease. Mutation / genetics. Receptors, Cell Surface / genetics


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

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  • (PMID = 16582078.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Letter; Research Support, N.I.H., Intramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 1.14.14.1 / Cytochrome P-450 CYP1A1; EC 1.14.14.1 / Cytochrome P-450 CYP2D6; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / GSTP1 protein, human; EC 2.5.1.18 / Glutathione S-Transferase pi; EC 2.5.1.18 / Glutathione Transferase; EC 2.5.1.18 / glutathione S-transferase M1
  • [Other-IDs] NLM/ PMC2563218
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63. Marsh A, Wicking C, Wainwright B, Chenevix-Trench G: DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat; 2005 Sep;26(3):283
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx.
  • Mutations in the PTCH gene are responsible for NBCCS but most studies have found mutations in less than half of the cases tested.
  • We used denaturing high performance liquid chromatography (DHPLC) to screen for PTCH mutations in 28 NBCCS cases, most of whom had been previously evaluated by single stranded conformation polymorphism analysis but found to be negative.
  • The mutation frequency was similar in inherited and de novo cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromatography, High Pressure Liquid / methods. DNA Mutational Analysis / methods. Mutation, Missense. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics. Sterols / chemistry

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  • (PMID = 16088933.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / Sterols; 0 / patched receptors
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64. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T: Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2010 Aug;110(2):e41-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Although multiple jaw tumors, such as keratocystic odontogenic tumors (KCOTs), are one of the most frequent complications in NBCCS, the molecular mechanism for how KCOTs develop in NBCCS is poorly understood.
  • A 15-year-old girl with 2 jaw tumors was diagnosed as NBCCS according to the clinical criteria.
  • The pathologic findings indicated that the 2 tumors were consistent with KCOTs.
  • A PTCH1 mutation, c.1472delT, was detected in her peripheral blood as well as in the 2 tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Mandibular Neoplasms / etiology. Maxillary Neoplasms / etiology. Odontogenic Tumors / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2010 Mosby, Inc. All rights reserved.
  • (PMID = 20659694.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Ki-67 Antigen; 0 / Receptors, Cell Surface; 0 / patched receptors; 136601-57-5 / Cyclin D1; 68238-35-7 / Keratins
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65. Leonardi R, Santarelli A, Barbato E, Ciavarella D, Bolouri S, Härle F, Palazzo G, Lo Muzio L: Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome. Anticancer Res; 2010 Oct;30(10):4265-7
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

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

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  • (PMID = 21036751.001).
  • [ISSN] 1791-7530
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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66. Pan S, Dong Q, Sun LS, Li TJ: Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clin Cancer Res; 2010 Jan 15;16(2):442-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
  • PURPOSE: PTCH1 has been identified as the gene responsible for nevoid basal cell carcinoma syndrome (NBCCS).
  • Keratocystic odontogenic tumors (KCOT) are aggressive jaw lesions that may occur in isolation or in association with NBCCS.
  • The aim of this study was to investigate the genetic and/or epigenetic mechanisms of inactivation of the PTCH1 gene in patients with NBCCS and related sporadic KCOTs.
  • EXPERIMENTAL DESIGN: Loss of heterozygosity was analyzed in 44 patients (15 NBCCS-related and 29 sporadic KCOTs), all of whom were previously analyzed for PTCH1 mutations.
  • Allelic location was established in tumors carrying two coincident mutations.
  • The distribution of two-hit, one-hit, and non-hit cases was significantly different between syndrome and nonsyndrome patients (P < 0.02).
  • CONCLUSIONS: This study indicates that PTCH1 gene alternation may play a significant role in the pathogenesis of NBCCS and the related sporadic tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gingival Neoplasms / genetics. Models, Genetic. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Alleles. Child. Female. Gene Expression Regulation, Neoplastic. Gene Silencing / physiology. Genetic Predisposition to Disease. Humans. Loss of Heterozygosity. Male. Middle Aged. Mutation / physiology. Odontogenic Tumors / genetics. Odontogenic Tumors / pathology. Young Adult

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  • (PMID = 20068110.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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67. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T: High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet; 2007 Dec;122(5):459-66
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
  • In this study, we used newly designed high-resolution oligonucleotide microarrays with a median distance between the probes of 776 bp (average probe interval 2,271 bp) to detect gene deletions in nevoid basal cell carcinoma syndrome (NBCCS) patients.
  • NBCCS, also called Gorlin syndrome, is characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the human patched-1 (PTCH1) gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Sequence Deletion
  • [MeSH-minor] Base Sequence. Child. Chromosomes, Human, Pair 9 / genetics. DNA Mutational Analysis. DNA, Neoplasm / genetics. Humans. Male. Molecular Sequence Data. Oligonucleotide Array Sequence Analysis / methods. Receptors, Cell Surface / genetics. Sequence Homology, Nucleic Acid

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  • (PMID = 17703323.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / patched receptors
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68. Leonardi R, Licciardello V, Santarelli A, Ciavarella D, Bolouri S, Härle F, Caltabiano M, Lo Muzio L: Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls. J Craniofac Surg; 2009 Jan;20(1):203-8
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls.
  • Craniofacial morphology of patients with nevoid basal cell carcinoma syndrome (NBCCS) has sometimes been reported at clinical examination, but any investigation has described it on the basis of cephalometric measurements.The purpose of this study was to conduct a cephalometric analysis of patients with NBCCS and to compare measurements with non-NBCCS subjects of similar ages, to elucidate if there is any relationship between NBCCS and craniofacial morphology.The study population consisted of 14 adult patients (9 men and 5 women), ranging in age from 18.2 to 56.8 years, with the diagnosis of NBCCS, with good-quality lateral cephalometric radiographs, and 14 adult healthy patients matched for age and sex to the NBCCS group.
  • Cephalometric measurements were carried out on radiographs, and measurements of angles and distances were performed.Statistical differences between NBCCS subjects and controls were observed.
  • Data analysis displayed that the measurements of the anterior cranial base (P <or= 0.0043), mandibular length (P <or= 0.0168), and maxillary length (P <or= 0.0284), posterior facial height (P <or= 0.0406), and of mandibular angle (P <or= 0.0026), facial axis angle (P <or= 0.0402), lower facial height angles (P <or= 0.0135), and of interincisal angulation (P <or= 0.0148) were higher in NBCCS subjects in respect to controls.
  • On the contrary, the facial convexity (P <or= 0.0189) and the mandibular arc angle (P <or= 0.0378) were reduced in NBCCS subjects.According to these findings, NBCCS patients presented a sagittal lengthening of the anterior cranial base and maxilla and a vertically and horizontally overdeveloped mandible, together with the features of a long-face syndrome with a large gonial angle.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Cephalometry / methods. Face. Facial Bones / pathology. Skull / pathology

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  • (PMID = 19165028.001).
  • [ISSN] 1536-3732
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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69. 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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  • [Cites] Cell Mol Life Sci. 2000 Nov;57(12):1720-31 [11130178.001]
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  • (PMID = 20609239.001).
  • [ISSN] 1471-2407
  • [Journal-full-title] BMC cancer
  • [ISO-abbreviation] BMC Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2912266
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70. Fonseca RB, Grzeszczak EF: Case 128: Bilateral ovarian fibromas in nevoid basal cell carcinoma syndrome. Radiology; 2008 Jan;246(1):318-21
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  • [Title] Case 128: Bilateral ovarian fibromas in nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Fibroma / diagnosis. Neoplasms, Multiple Primary / diagnosis. Ovarian Neoplasms / diagnosis

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  • (PMID = 18096544.001).
  • [ISSN] 1527-1315
  • [Journal-full-title] Radiology
  • [ISO-abbreviation] Radiology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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71. Shumaker PR, Lane K, Harford R: Linear unilateral basal cell nevus: a benign follicular hamartoma simulating multiple basal cell carcinomas. Cutis; 2006 Aug;78(2):122-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Linear unilateral basal cell nevus: a benign follicular hamartoma simulating multiple basal cell carcinomas.
  • We report a case of linear unilateral basal cell nevus (LBCN) occurring on the left lateral neck and left posterior shoulder of a 23-year-old woman.
  • LBCN is a rare benign follicular hamartoma that must be distinguished from the more aggressive unilateral and segmental variant of nevoid basal cell carcinoma syndrome (NBCCS) and the linear variant of BCC.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Hamartoma / pathology. Nevus / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Diagnosis, Differential. Female. Humans

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  • (PMID = 16983901.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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72. Gallego L, Junquera L: Association von Willebrand's disease and nevoid basal cell carcinoma syndrome (Gorlin syndrome). Haemophilia; 2008 Jul;14(4):835-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Association von Willebrand's disease and nevoid basal cell carcinoma syndrome (Gorlin syndrome).
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. von Willebrand Diseases / complications

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  • (PMID = 19160467.001).
  • [ISSN] 1365-2516
  • [Journal-full-title] Haemophilia : the official journal of the World Federation of Hemophilia
  • [ISO-abbreviation] Haemophilia
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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73. Fleet SL, Lane JE, Davis LS: Nevoid basal cell carcinoma syndrome in an adolescent boy. Pediatr Dermatol; 2006 Jan-Feb;23(1):99-101
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome in an adolescent boy.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / radiotherapy. Skin Neoplasms / diagnosis. Skin Neoplasms / radiotherapy
  • [MeSH-minor] Adolescent. Biopsy, Needle. Facial Dermatoses / diagnosis. Facial Dermatoses / radiotherapy. Follow-Up Studies. Humans. Immunohistochemistry. Low-Level Light Therapy / methods. Male. Risk Assessment. Treatment Outcome

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  • (PMID = 16445429.001).
  • [ISSN] 0736-8046
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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74. Hanneken S, Sterzinger AA, Schulte KW, Reifenberger J: [Photodynamic therapy for a nevoid basal cell carcinoma syndrome]. Hautarzt; 2005 Apr;56(4):363-4
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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 a nevoid basal cell carcinoma syndrome].
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Head and Neck Neoplasms / drug therapy. Head and Neck Neoplasms / pathology. Photochemotherapy / methods. Skin Neoplasms / drug therapy. Skin Neoplasms / pathology

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  • [Cites] N Engl J Med. 1960 May 5;262:908-12 [13851319.001]
  • [Cites] Br J Dermatol. 2003 Dec;149(6):1242-9 [14674903.001]
  • [Cites] Hautarzt. 2004 Oct;55(10):942-51 [15349693.001]
  • [Cites] Am J Med Genet. 1997 Mar 31;69(3):299-308 [9096761.001]
  • (PMID = 15750676.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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75. Kaminaka C, Yamamoto Y, Furukawa F: Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling. J Dermatol; 2007 Dec;34(12):841-3
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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 successfully treated with trichloroacetic acid and phenol peeling.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Caustics / therapeutic use. Phenol / therapeutic use. Sclerosing Solutions / therapeutic use. Skin Neoplasms / drug therapy. Trichloroacetic Acid / therapeutic use

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  • (PMID = 18078412.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Caustics; 0 / Sclerosing Solutions; 339NCG44TV / Phenol; 5V2JDO056X / Trichloroacetic Acid
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76. Bacanli A, Ciftcioglu MA, Savas B, Alpsoy E: Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy. J Eur Acad Dermatol Venereol; 2005 Jul;19(4):510-1
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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 associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiotherapy. Carcinoma, Basal Cell / diagnosis. Kidney Diseases / complications. Neoplasms, Radiation-Induced / diagnosis. Radiotherapy / adverse effects. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Diagnosis, Differential. Humans. Male


77. 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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78. 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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79. Lane JE, Allen JH, Lane TN, Lesher JL Jr: Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy. J Cutan Med Surg; 2005 Dec;9(6):336-40
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy.
  • BACKGROUND: Unilateral localized basal cell carcinomas are an uncommon finding that presents both a diagnostic and therapeutic challenge.
  • Exclusion of unilateral nevoid basal cell carcinoma syndrome is indicated.
  • OBJECTIVE: We present a patient with unilateral localized basal cell carcinomas who was successfully treated with photodynamic therapy.
  • The patient had an excellent therapeutic response with no clinically apparent basal cell carcinomas for 18 months.
  • CONCLUSIONS: We report a patient with unilateral basal cell carcinomas successfully treated with photodynamic therapy.
  • This uncommon entity represents a diagnostic challenge in its inherent absence of the classic clinical and radiographic findings of nevoid basal cell carcinoma syndrome.
  • Like nevoid basal cell carcinoma syndrome, unilateral basal cell carcinomas poses a therapeutic challenge with the sheer number of cutaneous tumors.
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Carcinoma, Basal Cell / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Middle Aged. Time Factors. Treatment Outcome

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  • (PMID = 16699902.001).
  • [ISSN] 1203-4754
  • [Journal-full-title] Journal of cutaneous medicine and surgery
  • [ISO-abbreviation] J Cutan Med Surg
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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80. 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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81. Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G: Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. Eur J Gynaecol Oncol; 2006;27(5):519-22
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report.
  • Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a hereditary condition transmitted as an autosomal dominant trait with high penetrance and variable expressivity.
  • The syndrome is characterized by numerous manifestations: basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs) are the leading ones.
  • In this article a typical Gorlin syndrome case associated with basal cell carcinoma of the vulva is described.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Vulvar Neoplasms / complications

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  • (PMID = 17139991.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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82. Kokcam I, Saki CE: A case of cutaneous myiasis caused by Wohlfahrtia magnifica. J Dermatol; 2005 Jun;32(6):459-63
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The disease is infrequent in Turkey; it is observed particularly in people with some predisposing factors.
  • A 46-year-old male farmer with nevoid basal cell carcinoma syndrome (NBCCS) presented with the complaint of a blood-tinged discharge and pain in the left frontal-temporal region for three days.
  • Physical examination revealed live maggots in the ulcerous wound resulting from basal cell carcinoma.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Diptera / parasitology. Myiasis / diagnosis. Skin Diseases, Parasitic / diagnosis. Skin Neoplasms / pathology

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  • (PMID = 16043920.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Japan
  • [Number-of-references] 22
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83. Nassab R, Rayatt S, Peart F: Infected palmar pits: a rare presentation of Gorlin's syndrome. J Hand Surg Br; 2005 Oct;30(5):459-60
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Infected palmar pits: a rare presentation of Gorlin's syndrome.
  • This paper presents a rare hand presentation of Gorlin's Syndrome, also known as Naevoid Basal Cell Carcinoma Syndrome, which has not been reported previously.
  • This condition is an autosomal dominant, multisystem condition whose diagnosis is important to ensure further surveillance and treatment of features of the condition not routinely dealt with by hand surgeons.
  • However, hand surgeons should be aware of this condition and those parts of the syndrome which may present to them.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Cellulitis / etiology. Hand

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  • (PMID = 16055245.001).
  • [ISSN] 0266-7681
  • [Journal-full-title] Journal of hand surgery (Edinburgh, Scotland)
  • [ISO-abbreviation] J Hand Surg Br
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Scotland
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84. Madan V, Loncaster JA, Allan D, Lear JT, Sheridan L, Leach C, Allan E: Nodular basal cell carcinoma in Gorlin's syndrome treated with systemic photodynamic therapy and interstitial optical fiber diffuser laser. J Am Acad Dermatol; 2006 Nov;55(5 Suppl):S86-9
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  • [Title] Nodular basal cell carcinoma in Gorlin's syndrome treated with systemic photodynamic therapy and interstitial optical fiber diffuser laser.
  • Nodular basal cell carcinomas resistant to multiple forms of treatment in two patients with nevoid basal cell carcinoma syndrome (Gorlin's syndrome) were treated with systemic porfimer sodium-based photodynamic therapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Carcinoma, Basal Cell / drug therapy. Photochemotherapy. Skin Neoplasms / drug therapy

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  • (PMID = 17052541.001).
  • [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
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 97067-70-4 / Dihematoporphyrin Ether
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85. Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC: Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J; 2006 Jan;43(1):21-9
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  • OBJECTIVE: Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome.
  • Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma.
  • Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome.
  • Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome.

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  • (PMID = 16405370.001).
  • [ISSN] 1055-6656
  • [Journal-full-title] The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
  • [ISO-abbreviation] Cleft Palate Craniofac. J.
  • [Language] ENG
  • [Grant] United States / FIC NIH HHS / TW / TW005503-05; United States / FIC NIH HHS / TW / D43 TW005503; United States / NIEHS NIH HHS / ES / R01 ES010876; United States / NIDCR NIH HHS / DE / R37 DE008559; United States / NHGRI NIH HHS / HG / N01HG65403; United States / NIDCR NIH HHS / DE / DE008559-16; United States / NIDCR NIH HHS / DE / DE43TW05503; United States / NIDCR NIH HHS / DE / DE08559; United States / NIEHS NIH HHS / ES / ES010876-05; United States / FIC NIH HHS / TW / D43 TW005503-05; United States / NIDCR NIH HHS / DE / R01 DE016148; United States / NIDCR NIH HHS / DE / R37 DE008559-16; United States / NIEHS NIH HHS / ES / ES10876; United States / NIDCR NIH HHS / DE / R01 DE008559; United States / NIEHS NIH HHS / ES / R01 ES010876-05; United States / NHGRI NIH HHS / HG / N01-HG-65403
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors; 5Z93L87A1R / Guanine; 8J337D1HZY / Cytosine; JAC85A2161 / Adenine; QR26YLT7LT / Thymine
  • [Other-IDs] NLM/ NIHMS15304; NLM/ PMC2151847
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86. de Lange J, Norbruis OF: [A mandibular swelling]. Ned Tijdschr Tandheelkd; 2005 Aug;112(8):298-301

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

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  • (PMID = 16128217.001).
  • [ISSN] 0028-2200
  • [Journal-full-title] Nederlands tijdschrift voor tandheelkunde
  • [ISO-abbreviation] Ned Tijdschr Tandheelkd
  • [Language] dut
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Netherlands
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87. 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
Genetic Alliance. consumer health - Nevus.

  • [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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88. Gerstenblith MR, Goldstein AM, Tucker MA: Hereditary genodermatoses with cancer predisposition. Hematol Oncol Clin North Am; 2010 Oct;24(5):885-906
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary genodermatoses with cancer predisposition.
  • In this article hereditary genodermatoses with cancer predisposition are reviewed, including nevoid basal cell carcinoma syndrome, neurofibromatosis types 1 and 2, tuberous sclerosis complex, xeroderma pigmentosum, and dyskeratosis congenita.
  • Hereditary melanoma is also included, though it differs from the others in several respects.
  • The underlying genetic aberrations causing these syndromes are largely known, allowing novel treatments to be developed for some of these disorders.
  • Early recognition and diagnosis allows for close follow-up and surveillance for associated malignancies.
  • [MeSH-major] Genetic Predisposition to Disease. Neoplastic Syndromes, Hereditary / genetics. Skin Diseases / genetics
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / therapy. Genetic Testing. Humans. Melanoma / genetics. Melanoma / therapy. Neurofibromatoses / genetics. Neurofibromatoses / therapy. Xeroderma Pigmentosum / genetics. Xeroderma Pigmentosum / therapy

  • Genetic Alliance. consumer health - Hereditary Cancer.
  • MedlinePlus Health Information. consumer health - Skin Conditions.
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  • [Copyright] Published by Elsevier Inc.
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  • (PMID = 20816579.001).
  • [ISSN] 1558-1977
  • [Journal-full-title] Hematology/oncology clinics of North America
  • [ISO-abbreviation] Hematol. Oncol. Clin. North Am.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / / Z01 CP004410-31
  • [Publication-type] Journal Article; Research Support, N.I.H., Intramural; Review
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS352798; NLM/ PMC3276063
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89. de Lima JL, Dias-Ribeiro E, Honfi ES, de Araújo TN, de Góes KK, Aragão Mdo S: Odontogenic Keratocyst of mandible. Indian J Otolaryngol Head Neck Surg; 2006 Oct;58(4):373-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Odontogenic Keratocyst of mandible.
  • The Odontogenic Keratocyst is a developmental odontogenic cyst and deserves special attention because of its peculiar histopathologic features and biologic behavior.
  • It is believed that the Odontogenic Keratocyst arises from the proliferation of remnants of dental lamina.
  • It is usually asymptomatic, and solitary lesion, however, it may be associated with Nevoid Basal Cell Carcinoma Syndrome.
  • This work aimed to present a case of a very extensive Odontogenic Keratocyst in a 28-year-old woman.

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  • (PMID = 23120352.001).
  • [ISSN] 2231-3796
  • [Journal-full-title] Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
  • [ISO-abbreviation] Indian J Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3450362
  • [Keywords] NOTNLM ; basal cell carcinoma / odontogenic cysts / odontogenic keratocyst
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90. Friedrich RE: Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)]. Anticancer Res; 2007 Jul-Aug;27(4A):1783-7
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)].
  • BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCC) is a rare and autosomal dominant inherited disease with well-defined characteristics, summarized by Gorlin and Goltz in 1960.
  • In the head and neck region, cerebral calcifications, basal cell carcinoma (BCC) and multiple keratocysts of the jaws are the predominant findings.
  • The aim of this study was to determine the diagnostic findings and the therapy for patients with NBCC.
  • PATIENTS AND METHODS: The medical files of 17 patients with NBCC, treated in a single institution (females: 9, males: 8) were evaluated.
  • Thirteen patients were also physically investigated, including X-ray diagnosis.
  • RESULTS: The age at the time of first surgical treatment related to the syndrome was 3 to 57 years (mean: 21.3 years).
  • A family history for NBCC was evident for 4 patients.
  • The number of patients with characteristic head and neck findings in the spectrum of NBCC varied: basal cell carcinoma (n = 15), keratocysts of the jaws (n = 13), cerebral calcification visible on plain radiographs (n = 15), palmar pits (n = 9).
  • Facial dysmorphism (hypertelorism) was evident in 4, and skeletal anomalies outside the skull occurred in 10 patients.
  • The medical histories revealed a cleft lip and palate in 2, and unilateral kidney agenesis in further 2 patients, emphasizing the variability of the syndrome.
  • One of these 2 patients underwent external irradiation for a BCC of the frontotemporal region.
  • Nine years later a frontal BCC had to be treated.
  • The other developed several other BCC inside and outside the irradiation field.
  • Up to 50 BCC per patient had to be resected.
  • The number of keratocysts of all patients was 66, with a predeliction for the mandibular angle in 44%.
  • Cerebral cysts occurred in one third of these patients (3/9).
  • CONCLUSION: The NBCC is a well-known syndrome with a variety of findings inside and outside the head and neck region.
  • Interdisciplinary cooperation is mandatory in the diagnosis and follow-up control of patients with NBCC.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / surgery

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  • (PMID = 17649773.001).
  • [ISSN] 0250-7005
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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91. Wang XX, Zhang J, Wei FC: Familial multiple odontogenic keratocysts. J Dent Child (Chic); 2007 May-Aug;74(2):140-2

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Familial multiple odontogenic keratocysts.
  • Multiple odontogenic keratocysts (OKCs) are principle features of nevoid basal cell carcinoma syndrome (NBCCS; Gorlin-Goltz syndrome).
  • NBCCS is a genetic disorder transmitted by an autosomal dominant gene with variable expressivity, which is important to recognize when a patient has multiple OKCs.
  • The cysts of the jaws are among the most common findings.
  • Before-therapy diagnosis is, therefore, as important as after-therapy diagnosis.
  • The purpose of this paper was to present a family case report of nevoid basal cell carcinoma syndrome with multiple odontogenic keratocysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Jaw Cysts / complications

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  • (PMID = 18477436.001).
  • [ISSN] 1935-5068
  • [Journal-full-title] Journal of dentistry for children (Chicago, Ill.)
  • [ISO-abbreviation] J Dent Child (Chic)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 68238-35-7 / Keratins
  • [Number-of-references] 10
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92. Sun LS, Li XF, Li TJ: PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. J Dent Res; 2008 Jun;87(6):575-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
  • Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive jaw lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS).
  • Mutations in the PTCH1 (PTCH) gene are responsible for NBCCS and are related in tumors associated with this syndrome.
  • Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS.
  • To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included.
  • Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs.
  • ABBREVIATIONS: NBCCS, nevoid basal cell carcinoma syndrome; KCOTs, keratocystic odontogenic tumors; BCCs, basal cell carcinomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Jaw Neoplasms / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics. Receptors, G-Protein-Coupled / genetics

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  • (PMID = 18502968.001).
  • [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; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / Smoothened Receptor; 68238-35-7 / Keratins
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93. 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
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] 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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94. de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM: [From gene to disease: basal cell naevus syndrome]. Ned Tijdschr Geneeskd; 2005 Jan 8;149(2):78-81

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [From gene to disease: basal cell naevus syndrome].
  • Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3.
  • It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies.
  • Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosomes, Human, Pair 9. Genes, Tumor Suppressor. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15688838.001).
  • [ISSN] 0028-2162
  • [Journal-full-title] Nederlands tijdschrift voor geneeskunde
  • [ISO-abbreviation] Ned Tijdschr Geneeskd
  • [Language] dut
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 8
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95. Gu XM, Li TJ: [Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing]. Hua Xi Kou Qiang Yi Xue Za Zhi; 2006 Aug;24(4):293-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing].
  • OBJECTIVE: To investigate PTCH gene mutations in odontogenic keratocysts (OKC).
  • METHODS: PCR-SSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
  • RESULTS: Four mutations were identified in 4 cysts, among which two germline mutations were associated with NBCCS and 2 somatic mutations were in 2 unrelated sporadic cases.
  • CONCLUSION: The present study indicated that both sporadic and NBCCS-related OKCs could carry PTCH gene mutation.
  • [MeSH-major] Polymorphism, Single-Stranded Conformational. Receptors, Cell Surface
  • [MeSH-minor] Basal Cell Nevus Syndrome. Female. Humans. Mutation. Odontogenic Cysts. Polymerase Chain Reaction. Polymorphism, Genetic. Sequence Analysis, DNA

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  • (PMID = 16999341.001).
  • [ISSN] 1000-1182
  • [Journal-full-title] Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
  • [ISO-abbreviation] Hua Xi Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface
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96. Godhi SS, Kukreja P: Keratocystic odontogenic tumor: a review. J Maxillofac Oral Surg; 2009 Jun;8(2):127-31

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratocystic odontogenic tumor: a review.
  • The odontogenic keratocyst is a very well known odontogenic cyst.
  • There are many types of cysts of the jaws, but what makes the odontogenic keratocyst unusual are its characteristic histopathological and clinical features, including potentially aggressive behaviour, high recurrence rate, and an association with the nevoid basal cell carcinoma syndrome.
  • The characteristic histologic feature i.e. the presence of parakeratin, is unique amongst all the different inflammatory and developmental cysts that occur in the jaws.
  • The 2005 WHO classification now uses the term 'keratocystic odontogenic tumor'.

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  • (PMID = 23139489.001).
  • [ISSN] 0972-8279
  • [Journal-full-title] Journal of maxillofacial and oral surgery
  • [ISO-abbreviation] J Maxillofac Oral Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3453933
  • [Keywords] NOTNLM ; Cyst / Odontogenic tumor
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97. Daya-Grosjean L, Couvé-Privat S: Sonic hedgehog signaling in basal cell carcinomas. Cancer Lett; 2005 Jul 28;225(2):181-92
SciCrunch. KEGG: Data: Disease Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sonic hedgehog signaling in basal cell carcinomas.
  • The development of basal cell carcinoma, the commonest human cancer in fair skinned populations, is clearly associated with constitutive activation of sonic hedgehog signaling.
  • Insight into the genesis of BCC came from the identification of germline mutations of the tumor suppressor gene, PATCHED, a key regulatory component of hedgehog signaling in the nevoid basal cell carcinoma syndrome.
  • Analysis of sporadic basal cell carcinomas and those from repair deficient xeroderma pigmentosum patients has revealed mutational inactivation of PATCHED and gain of function mutations of the proto-oncogenes, SMOOTHENED and SONIC HEDGEHOG associated with solar UV exposure.
  • The molecular mechanisms involved in alterations of the hedgehog signaling pathway that lead to the formation of basal cell carcinomas are being unraveled and has already allowed the investigation of future therapeutic strategies for treating these skin cancers.
  • [MeSH-major] Carcinoma, Basal Cell / metabolism. Signal Transduction. Trans-Activators / metabolism

  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
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  • (PMID = 15978322.001).
  • [ISSN] 0304-3835
  • [Journal-full-title] Cancer letters
  • [ISO-abbreviation] Cancer Lett.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / SHH protein, human; 0 / Trans-Activators
  • [Number-of-references] 96
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98. Chi AC, Owings JR Jr, Muller S: Peripheral odontogenic keratocyst: report of two cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2005 Jan;99(1):71-8
MedlinePlus Health Information. consumer health - Gum Disease.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Peripheral odontogenic keratocyst: report of two cases and review of the literature.
  • The odontogenic keratocyst is a developmental odontogenic cyst most commonly occurring in the jaws.
  • Although most authors have regarded these soft tissue lesions to be peripheral odontogenic keratocysts, others have preferred to regard them as histopathologic variants of the gingival cyst of the adult.
  • Given the distinct microscopic features and possible association with nevoid basal cell carcinoma syndrome, we favor the view that this lesion represents the soft tissue counterpart of the intraosseous odontogenic keratocyst.
  • [MeSH-major] Gingival Diseases / pathology. Odontogenic Cysts / pathology
  • [MeSH-minor] Aged. Aged, 80 and over. Alveolar Bone Loss / pathology. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Mandibular Diseases / pathology. Maxillary Diseases / pathology. Middle Aged

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  • (PMID = 15599351.001).
  • [ISSN] 1079-2104
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 22
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99. Mills O, Thomas LB: Basaloid follicular hamartoma. Arch Pathol Lab Med; 2010 Aug;134(8):1215-9
The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for basaloid follicular hamartoma .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Basaloid follicular hamartoma is a benign lesion of important consideration because it can be mistaken both clinically and histologically for basal cell carcinoma.
  • The formation of basaloid follicular hamartoma has been linked to a mutation in the patched gene, which is part of the same pathway implicated in nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Hair Diseases / diagnosis. Hair Follicle / pathology. Hamartoma / diagnosis
  • [MeSH-minor] Carcinoma, Basal Cell / diagnosis. Diagnosis, Differential. Humans. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / diagnosis

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  • (PMID = 20670146.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 23
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100. Brailey LL, Davis T, Kolker SE, Murry TC, Thomas D, Bale AE, Ruhoy SM: Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. J Cutan Pathol; 2007 Jan;34(1):65-70
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] Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies.
  • BACKGROUND: Linear unilateral basal cell nevus represents a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign clinical behavior.
  • We describe a patient who initially presented at the age of 6 months with a unilateral linear basal cell nevus on the right flank.
  • The differential diagnosis included the nevoid basal cell carcinoma syndrome.
  • Constitutional PTCH mutations are causative of the nevoid basal cell carcinoma syndrome, and somatic PTCH mutations are found in the vast majority of basal cell carcinomas.
  • Somatic SMO mutations have also been found in some basal cell carcinomas.
  • RESULTS: Histologic examination revealed features initially indistinguishable from basal cell carcinoma.
  • CONCLUSION: Molecular examination indicates that the PTCH and SMO genes are not involved in the pathogenesis of the patients' congenital linear unilateral basal cell nevus.
  • Furthermore, we discuss the relationship between linear basal cell nevus and basaloid follicular hamartoma.
  • [MeSH-major] Nevus / genetics. Nevus / pathology. Skin Neoplasms / genetics. Skin Neoplasms / pathology. Thigh
  • [MeSH-minor] DNA, Neoplasm. Diagnosis, Differential. Humans. Infant. Loss of Heterozygosity. Microsatellite Repeats. Mutation. Receptors, Cell Surface / genetics. Receptors, G-Protein-Coupled / genetics

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  • (PMID = 17214858.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / patched receptors
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