Pili Torti — SCE Dermatology MCQ

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HardHair DisordersPili TortiSCE Dermatology

A 25-year-old man presents with pili torti identified on trichoscopy. The hair shafts appear twisted along their long axis at irregular intervals. He also has sensorineural hearing loss. Which syndrome should be considered?

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Correct answer: C — Björnstad syndrome

The best answer is “Björnstad syndrome”. 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 “Netherton syndrome”, “Turner syndrome”, “Trichothiodystrophy”, “Menkes disease” 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/