Darier Disease

Other names: Darier-White disease; keratosis follicularis

OMIM: 124200

Inheritance: autosomal dominant

Incidence: 1:55,000

Key findings:

  • skin: small warty papules most commonly on scalp, face, chest, groin, lower legs; papules often coalesce to form large plaques that appear to be surrounded by apparently normal-looking skin; can be itchy, weepy or raw; some individuals have characteristic smooth papules on palms or backs of hands or keratotic pits on palms; some develop small hemorrhages on hands
  • nails: red or white longitudinal bands often extend to a notch at end of the nail
  • mucous membranes: smooth papules inside mouth or anogenital mucosa

Associated findings:

  • nervous system: neuropsychiatric abnormalities occur in some families

Age at first appearance: usually second decade, sometimes later

Long-term course: spontaneous relapses and remissions are common, but generally tends to worsen over time; heat and sun exposure are known causes of exacerbations; superficial bacterial infections are common and herpes simplex virus infections can become widespread

Diagnostic tests: skin biopsy shows characteristic changes; analysis of cellular DNA

Abnormal gene: calcium transporter gene ATP2A2


 


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