Darier-White syndrome


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Related to Darier-White syndrome: Darier Disease

Darier-White syndrome

A rare autosomal dominant disorder of keratinisation characterised by multiple focal keratotic papules with acantholytic dyskeratosis. It first appears in childhood or adolescence with the formation of numerous flesh-colored papules in sebaceous areas of the skin glands—chest, scalp, forehead, back, ears, groin, nasolabial folds—which, with time, become encrusted. The nails are dystrophic, palms possibly pitted; variable retinitis pigmentosa and cataracts.

Molecular pathology
Defect in the desmosome-keratin filament complex due to ATP2A2 mutations.