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Gorlin Syndrome — SCE Dermatology MCQ

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ModerateSkin CancerGorlin SyndromeSCE Dermatology

A 60-year-old man with recurrent BCC has Gorlin syndrome confirmed by genetic testing. He has a PTCH1 mutation. What surveillance programme is recommended?

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Correct answer: D6-monthly full skin examination (ideally with photography), dental surveillance for keratocysts, and baseline brain MRI — comprehensive multisystem surveillance

Gorlin syndrome (basal cell naevus syndrome) requires comprehensive multisystem surveillance: dermatological (6-monthly full skin examination with photography, low-threshold excision of suspicious lesions), dental (annual OPG radiograph for odontogenic keratocysts from age 8), neurological (baseline brain MRI for childhood medulloblastoma risk — peak risk age 2-5), cardiac (echocardiogram for cardiac fibroma), and ophthalmological assessment. BCCs typically begin appearing in teens/twenties and may number hundreds over a lifetime. Hedgehog pathway inhibitors (Vismodegib, Sonidegib) can be used for locally advanced/numerous BCCs. Field treatments (PDT, topical 5-FU, Imiquimod) are useful for superficial BCCs. Radiotherapy is contraindicated (can induce new BCCs within the radiation field).

Reference: BAD 2021 BCC; NICE Gorlin Syndrome