Peutz-Jeghers Syndrome — ORE Part 1 MCQ
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Correct answer: E — Melanotic macules on the lips
The correct answer is E. Peutz-Jeghers syndrome is characterised by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. Characteristic dark melanotic macules/freckling commonly affect the lips and perioral region; pigmentation may also occur on the oral mucosa. Gingival enlargement is more suggestive of medication effects, inflammation or other syndromic conditions. Multiple supernumerary teeth are associated with conditions such as cleidocranial dysplasia rather than Peutz-Jeghers syndrome. Buccal white plaques describe a keratotic lesion such as leukoplakia, not the typical pigmentary change. Enamel hypoplasia is a developmental enamel defect and is not a characteristic feature of Peutz-Jeghers syndrome.
Reference: Genomics Education Programme. Peutz-Jeghers syndrome, Clinical features, updated 11 June 2026. https://www.genomicseducation.hee.nhs.uk/documents/peutz-jeghers-syndrome/