Results 31 to 40 of about 1,227,280 (190)
Oral and Maxillofacial Surgery Cases, 2022 Objective: This case series reports the clinical presentation and management of multiple odontogenic keratocysts (OKCs) in patients with Gorlin Goltz syndrome and in non-syndromic patients.
Omer Sefvan Janjua +4 more
doaj +1 more source
Actas Dermo-Sifiliográficas (English Edition), 2018 Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages.
Palacios-Álvarez, Irene +2 more
openaire +3 more sources
Türk Pediatri Arşivi, 2017 Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification.
Betül, Şereflican +5 more
openaire +2 more sources
Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome. [PDF]
, 2016 BACKGROUND Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is ...
Stieger, Marco +3 more
core +2 more sources
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 +3 more
openaire +3 more sources
Two sisters resembling Gorlin-Chaudhry-Moss syndrome [PDF]
, 2011 The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal ...
Cristóbal Passalacqua +7 more
core +1 more source
Gorlin–Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing
Archives of Plastic Surgery, 2023 Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene ...
Hyo Seong Kim +4 more
doaj +1 more source
Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). [PDF]
, 2010 We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). He presented with left testicular swelling and underwent a radical orchiectomy on suspicion of a malignant paratesticular ...
Nishiyama, Hiroyuki +17 more
core +1 more source
Egyptian Journal of Medical Human Genetics, 2023 Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes.
Paula Conde-Rubio +4 more
doaj +1 more source
Basaloid follicular hamartoma associated with follicular mucinosis and inflammation
Anais Brasileiros de Dermatologia, 2022 Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma.
Solange Edelman +3 more
doaj +1 more source