Darier’s disease

Abstract

Darier’s disease (DD) is an autosomal dominant disease induced by haplo-insufficiency with variable expressivity but with complete penetrance in adults. Considerable variation in severity and in clinical manifestation was found between families. Lesions are hyperkeratotic, greasy papules, which are skin colored, yellow, or brown, that may coalesce into large plaques. Pruritus occurs in 80 % of patients and may be intractable. Nails, mucous, and folds can be involved. The disease usually has a chronic relapsing course. Diagnosis must be confirmed by histology, showing focal acantholytic dyskeratosis. Sun and heat avoidance, use of sunscreens, and maintenance of personal hygiene can be helpful. Clothing should be cool cotton and not too tight. Therapy is challenging and sometimes frustrating. It is based on topical and systemic retinoids or surgical procedures.