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Darier Disease Triggers — SCE Dermatology MCQ

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HardBlistering DiseasesDarier Disease TriggersSCE Dermatology

A patient with Darier disease develops greasy crusted papules in seborrhoeic and flexural sites after heat, sweating and ultraviolet exposure. Which molecular defect best explains the acantholytic dyskeratosis?

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Correct answer: AATP2A2 dysfunction impairing SERCA2-mediated intracellular calcium handling

Explanation lettering: D = shown as A · C = shown as B · A = shown as C · B = shown as D

D is correct. Darier disease is an autosomal-dominant ATP2A2 disorder affecting the SERCA2 calcium pump. Disrupted keratinocyte calcium signalling impairs desmosomal adhesion and differentiation, producing acantholysis and dyskeratosis; heat, sweating, friction and UV commonly aggravate it. ATP7B causes Wilson disease, ABCC6 causes pseudoxanthoma elasticum, FERMT1 causes Kindler epidermolysis bullosa and TGM1 is associated with autosomal-recessive congenital ichthyosis. The distribution and trigger pattern therefore fit a calcium-pump acantholytic disorder rather than a junctional or cornification defect.

Reference: BAD Darier disease information: https://www.bad.org.uk/pils/darier-disease