Open AccessNevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children
Author(s) -
Saleh Binsheikhan,
Saurabh Mittal,
Mohammed Al Abadie
Publication year - 2021
Publication title -
european journal of medical and health sciences
Language(s) - English
Resource type - Journals
ISSN - 2593-8339
DOI - 10.24018/ejmed.2021.3.5.888
Subject(s) - nevoid basal cell carcinoma syndrome , basal cell carcinoma , basal cell nevus syndrome , pathology , dermatology , forehead , medicine , genetic disorder , patched , disease , basal cell , biology , anatomy , gene , genetics , hedgehog signaling pathway
Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age.Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC).Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.