Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case Report and Literature Review

Publication date: Available online 1 September 2015 Source:Journal of Dermatology & Dermatologic Surgery Author(s): S. AlSalem, Y. Binamer Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is an autosomal dominant multisystem disorder, characterized by multiple developmental abnormalities and inactivation germline mutations in the human homolog of the patched (PTCH) gene. We are presenting a case of NBCCS in a skin type 4 Saudi male with a novel PTCH1 gene mutation. To the best of our knowledge, this is the third case reported in Saudi Arabia but the first in adult population. Moreover, our patient harbors a novel heterozygosity mutation in patch1 gene.
Source: Journal of Dermatology and Dermatologic Surgery - Category: Dermatology Source Type: research