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Lamellar Ichthyosis — SCE Dermatology MCQ

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HardPaediatric DermatologyLamellar IchthyosisSCE Dermatology

A 15-year-old boy presents with a collodion membrane at birth that subsequently shed to reveal generalised ichthyosis with large dark plate-like scales. He has bilateral ectropion and eclabium. Genetic testing confirms TGM1 mutation. What is the diagnosis?

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Correct answer: E — Lamellar ichthyosis

The best answer is “Lamellar ichthyosis”. 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 “Epidermolytic ichthyosis (bullous ichthyosiform erythroderma)”, “Netherton syndrome”, “Ichthyosis vulgaris”, “X-linked ichthyosis” 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/