Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

Journal Article

AlSalem, Sultan B. . 2015

• نوع عمل المنشور: Case Report
• رابط المنشور على الويب: Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review
• الوسوم: NBCCS, Gorlin Syndrome, Saudi, Adult, PTCH1
• المجلة \ الصحيفة: Journal of Dermatology, and Dermatologic Surgery

مستخلص المنشور

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.