Gorlin-Goltz Syndrome — MFDS Part 1 MCQ

Correct answer: C — Gorlin syndrome

The correct answer is C, Gorlin syndrome, also called naevoid basal cell carcinoma syndrome. Multiple odontogenic keratocysts presenting in adolescence are a characteristic feature, and a histologically confirmed jaw keratocyst is a major diagnostic criterion. Other associations include basal cell carcinomas, palmar or plantar pits, bifid ribs and calcification of the falx cerebri. The syndrome is autosomal dominant and usually results from a pathogenic PTCH1 variant, although SUFU variants are a less common cause. Gardner syndrome is associated with jaw osteomas and colorectal polyposis; cleidocranial dysplasia causes delayed eruption and multiple supernumerary teeth. Peutz–Jeghers syndrome causes mucocutaneous pigmentation and hamartomatous polyps, while Cowden syndrome may produce multiple oral papillomatous lesions rather than odontogenic keratocysts.

Reference: NHS England National Genomics Education Programme. GeNotes Knowledge Hub: Gorlin syndrome, sections ‘Clinical features’, ‘Genomics’ and ‘Diagnosis’. Last reviewed 14 May 2025. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/gorlin-syndrome/