Case Study

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

S. Binsheikhan
NMC Royal Hospital, United Arab Emirates
S. Mittal
NMC Royal Hospital, United Arab Emirates
* Corresponding author
M. Al Abadie
The Royal Wolverhampton NHS Trust, United Kingdom
DOI icon 10.24018/ejmed.2021.3.5.888

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Submitted 2021-05-22
Published 2021-09-30

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Introduction: 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.

Keywords: Gorlin syndrome, medulloblastoma, nevoid basal cell carcinoma syndrome

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