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Incontinentia Pigmenti — SCE Dermatology MCQ

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HardPaediatric DermatologyIncontinentia PigmentiSCE Dermatology

An infant has erythroderma, failure to thrive, very high IgE and hair shafts showing trichorrhexis invaginata. Which genetic defect is most likely?

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Correct answer: E — Biallelic SPINK5 variants causing LEKTI deficiency

Trichorrhexis invaginata is highly characteristic of Netherton syndrome, caused by biallelic SPINK5 variants and deficiency of the serine-protease inhibitor LEKTI. Barrier failure, atopy and infection risk can be severe in infancy.

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