Results 11 to 20 of about 1,019 (146)

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, Kranti C Jaykar, Rajesh Kumar, Abhijeet Kumar Jha, P K Banerjee   +4 more
doaj   +3 more sources

Syndrome in question: Gorlin-Goltz syndrome. [PDF]

An Bras Dermatol, 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 abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized
Ribeiro PL, Souza JB, Abreu KD, Brezinscki MS, Pignaton CC.   +4 more
europepmc   +5 more sources

Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study [PDF]

Frontiers in Medicine
Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is a rare autosomal dominant tumor-predisposition disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, and variable systemic manifestations ...
Linli Liu, Heng Du, Neng Wang, Shuang Lv, Chunshui Yu, Lingli Deng   +5 more
doaj   +2 more sources

Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome [PDF]

Current Oncology
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the PTCH1 gene, which regulates the Hedgehog signaling pathway. This genetic defect leads
Petko Petrov, Dobromira Shopova, Georgi Goranov, Atanaska Dinkova, Nina Stoyanova, Nikolay Yanev   +5 more
doaj   +2 more sources

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports
We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
doaj   +2 more sources

A Rare Case of Gorlin-Goltz Syndrome in Children [PDF]

Case Reports in Dentistry, 2019
The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression.
Fernanda Brasil Daura Jorge Boos Lima, Ana Paula Cota Viana, Luciano Henrique Ferreira Lima, Bruna Campos Ribeiro, Carlos Eduardo Assis Dutra, Glaykon Alex Vitti Stabile, Sergio Monteiro Lima Junior   +6 more
doaj   +2 more sources

Genetic Insight into Gorlin–Goltz Syndrome

Indian Journal of Dermatology
Gorlin-Goltz syndrome, also called Basal cell nevus syndrome (BCNS), Nevoid basal cell carcinoma syndrome (NBCCS), or Basal nevus cell carcinoma syndrome (BNCCS) is a rare, inherited, autosomal dominant genodermatoses, with variable expression and ...
M Madhu
doaj   +2 more sources

Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report. [PDF]

Neurol Clin Neurosci, 2023
Abstract Gorlin‐Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis.
Ghosh R, León-Ruiz M, Purkait S, Roy D, Ghosh T, Benito-León J.   +5 more
europepmc   +2 more sources

Gorlin Goltz Syndrome: Beware of Melanoma [PDF]

Dermatology Practical & Conceptual, 2022
Filomena Russo, Flavio Giulio Liso, Francesco Santi, Luca Provvidenziale, Paolo Taddeucci, Pietro Rubegni   +5 more
doaj   +2 more sources

Gorlin-Goltz syndrome

Annals of Medical and Health Sciences Research, 2014
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic ...
Mehta, DN, Raval, N, Patadiya, H, Tarsariya, V   +3 more
  +6 more sources