skip to main content

Gorlin Syndrome — NDEB AFK MCQ

Instant feedback + full explanation. One question, done properly.

ModerateOral PathologyGorlin SyndromeNDEB AFK

An 18-year-old presents with multiple small keratocysts of the jaws, basal cell carcinomas on the face and trunk, calcification of the falx cerebri, and skeletal anomalies. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — Gorlin syndrome (nevoid basal cell carcinoma syndrome)

Gorlin syndrome (NBCCS) is an autosomal dominant condition caused by mutations in the PTCH1 gene (Hedgehog signalling pathway). It is characterised by multiple odontogenic keratocysts (often presenting in the first or second decade), multiple basal cell carcinomas (appearing at a young age), calcification of the falx cerebri, skeletal anomalies (bifid ribs, spina bifida occulta), palmar/plantar pits, and medulloblastoma risk. OKCs in young patients should prompt investigation for this syndrome.

Reference: Neville – Oral and Maxillofacial Pathology, 4th ed., 2016