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


Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about Darier disease, follow this link.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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