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Peutz-Jeghers Syndrome — SCE Dermatology MCQ

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HardSkin CancerPeutz-Jeghers SyndromeSCE Dermatology

A 30-year-old woman presents with multiple brown macules on her lips and buccal mucosa. She also has macules on her fingertips. She has a family history of GI polyps. What syndrome does this suggest?

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Correct answer: A — Peutz–Jeghers syndrome caused by an STK11 pathogenic variant

The best answer is “Peutz–Jeghers syndrome caused by an STK11 pathogenic variant”. The diagnosis follows the defining morphology, distribution, histopathology and time course; management changes when red flags, scarring, systemic disease or malignancy risk are present. The alternatives “Laugier–Hunziker syndrome, when the full phenotype supports it”, “Cowden syndrome, within an appropriate UK pathway”, “Addison disease, after clinicopathological correlation, after specialist assessment”, “Noonan syndrome with multiple lentigines, after specialist assessment” are clinically adjacent possibilities, but they do not fit the defining morphology, distribution, histopathology, risk signal or management sequence in this stem.

Reference: British Association of Dermatologists clinical resources: https://www.bad.org.uk/