Syndrome in question: Gorlin-Goltz syndrome
| Autor: | Karina Demoner de Abreu, Pauline Lyrio Ribeiro, João Basilio de Souza Filho, Christine Chambo Pignaton, Marisa Simon Brezinscki |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Patched
Syndrome in Question Pathology medicine.medical_specialty Tumor suppressor gene Basal cell nevus syndrome Basal Cell Nevus Syndrome Nevoid basal-cell carcinoma syndrome 030206 dentistry Dermatology Bifid rib Scoliosis Biology medicine.disease stomatognathic diseases 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine RL1-803 Odontogenic cysts medicine Carcinoma basal cell Hypertelorism medicine.symptom Palmar crease |
| Zdroj: | Anais Brasileiros de Dermatologia Anais Brasileiros de Dermatologia, Vol 91, Iss 4, Pp 541-543 (2016) |
| ISSN: | 0365-0596 |
| DOI: | 10.1590/abd1806-4841.20164428 |
| Popis: | 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 and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. |
| Databáze: | OpenAIRE |
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