A 16-year-old boy has multiple early-onset basal cell carcinomas, small pits on his palms, hypertelorism, and a panoramic dental radiograph showing multiple radiolucent jaw lesions. He is also at increased lifetime risk for which intracranial tumour?
- A Glioblastoma
- B Medulloblastoma ✓
- C Ependymoma
- D Meningioma
Correct answer: B. Medulloblastoma
Explanation
Gorlin syndrome (naevoid basal cell carcinoma syndrome) is caused by PTCH1 mutation in the Hedgehog pathway, and features multiple BCCs, odontogenic keratocysts of the jaw, palmar pits, bifid ribs, and calcification of the falx cerebri. Patients carry a marked increased risk of medulloblastoma in childhood. Falx calcification distinguishes it radiologically from other syndromes.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.