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Hailey-Hailey Genetics — SCE Dermatology MCQ

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HardBlistering DiseasesHailey-Hailey GeneticsSCE Dermatology

A patient with genetically confirmed Hailey–Hailey disease asks about recurrence risk in their children. Which gene and inheritance pattern are correct?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: D — ATP2C1-related autosomal-dominant inheritance with variable expression

The best answer is “ATP2C1-related autosomal-dominant inheritance with variable expression”. Hailey–Hailey disease results from ATP2C1 dysfunction, not the ATP2A2 defect of Darier disease. Autosomal-dominant transmission gives each child a one-in-two inheritance probability, although severity varies. The alternatives “ATP2A2-related autosomal-dominant inheritance, when the full phenotype supports it”, “ATP2C1-related autosomal-recessive inheritance, within an appropriate UK pathway”, “COL7A1-related X-linked inheritance, after clinicopathological correlation”, “KRT14-related mitochondrial inheritance, 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: BAD Hailey-Hailey disease information: https://www.bad.org.uk/pils/hailey-hailey-disease