Gorlin syndrome

Gorlin's Syndrome is a rare autosomal dominant condition characterised by a marked predisposition to developing multiple basal cell carcinomata. The description of basal cell carcinoma associated with congenital rib anomalies and acquired jaw cysts dates back to 1894. This association, along with calcification of falx cerebri, was established as a unique syndrome by Gorlin and Goltz in 1960. Therefore, it is also known as Gorlin-Goltz syndrome and Gorlin syndrome as well as nevoid basal cell carcinoma syndrome and basal cell nevus syndrome.

The prevalence of Gorlin syndrome is estimated at 1 per 40,000 to 60,000 individuals. The disease affects men and women in rather equal distribution (1:1.3). Although the disease affects all races, Black and Asian individuals represent only 5% of cases and more often are incidentally diagnosed with extracutaneous findings, such as odontogenic keratocysts, as compared to BCCs.

Gorlin syndrome is caused by a mutation in the patched 1 (PTCH1) tumour suppressor gene on chromosome 9q.

Classical clinical features include:

• multiple basal cell carcinoma lesions on the skin
• palmar pits
• cysts within the mandible
• fused or bifid ribs
• calcification of the falx cerebri
• cataracts

Reference

1. Hasan A, Akintola D. An Update of Gorlin-Goltz Syndrome. Prim Dent J. 2018 Sep 01;7(3):38-41