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Journal of Medical Case Reports, 2009 Introduction Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental defects. The disorder results from mutations in the PTCH1 gene.
Hellani Ali +4 more
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A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? [PDF]
Hum Genome Var, 2019 Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous ...
Altaraihi M +4 more
europepmc +2 more sources
Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report [PDF]
, 2013 Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc.
Belli, E. +11 more
core +2 more sources
Gorlin-Goltz syndrome: A rare case
Indian Journal of Dermatology, 2015 Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri.
Satyaki Ganguly +4 more
doaj +1 more source
Nevoid basal cell carcinoma (Gorlin) syndrome [PDF]
Genetics in Medicine, 2004 The nevoid basal cell carcinoma syndrome is characterized by numerous basal cell cancers and epidermal cysts of the skin, odontogenic keratocysts of the jaws, palmar and plantar pits, calcified dural folds, various neoplasms or hamartomas (ovarian fibromas, medulloblastoma, lymphomesenteric cysts, fetal rhabdomyomas, etc.) and various stigmata of ...
openaire +2 more sources
Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature
Epilepsy & Behavior Reports, 2020 Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin–Goltz syndrome but remains ill-
Daniel Tomasso +2 more
doaj +1 more source
Indian Journal of Dermatology, 2013 Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones.
Basanti Devi +4 more
doaj +1 more source
Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case
Journal of Orofacial Sciences, 2013 Keratocystic odontogenic tumor (KCOT) is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences.
Shalu Rai +4 more
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Syndrome in question: Gorlin-Goltz syndrome [PDF]
Anais Brasileiros de Dermatologia, 2016 : The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal ...
Pauline Lyrio Ribeiro +4 more
doaj +1 more source
Nevoid basal cell carcinoma syndrome: A clinical case report
Advances in Oral and Maxillofacial Surgery, 2022 Nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome is a multi system disease exhibiting varied developmental abnormalities and a predisposition to neoplasms.A dentist may play a key role in early diagnosis of this disorder considering ...
Charu Girotra +4 more
doaj +1 more source