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Ichthyosis Vulgaris — SCE Dermatology MCQ

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HardPaediatric DermatologyIchthyosis VulgarisSCE Dermatology

A boy has dark adherent generalised scaling, cryptorchidism and a maternal history of prolonged labour due to low placental oestrogen production. Which molecular defect is most likely?

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Correct answer: D — Steroid sulfatase deletion

X-linked ichthyosis is caused by steroid sulfatase deficiency, usually from an Xp22.3 deletion. Placental steroid sulfatase deficiency can reduce maternal oestrogen production and delay labour, while affected boys may have cryptorchidism and corneal opacities.

Reference: https://academic.oup.com/bjd/pages/bad-guidelines