Darier disease

Also known as: Darier-White disease; Keratosis Follicularis

Overview

Darier disease is a genetic skin condition. The main features are warty bumps on the skin (called papules), nail abnormalities, and changes in the skin of the mouth and/or the anus. Skin papules are yellow, pink or brown, and are commonest in sweaty areas such as scalp, forehead, neck, back, armpits, and groins. They may be itchy or occasionally painful, and sometimes can be smelly. Nails may be brittle, dry and ridged. Mouth/anus changes are white papules, and only occur in a percentage of affected people. The condition usually starts between the ages of 10 to 20 years and tends to worsen with exposure to sunlight. Individuals with Darier disease are often susceptible to both bacterial and viral skin infections. Usually Darier disease is diagnosed by its clinical appearance, family history and a skin biopsy (removal of skin tissue for examination). Management includes creams and/or medicines to control itching and improve the appearance of the skin. Antibiotics/anti-viral medication may be needed to treat infections. Darier disease is caused by a change (mutation) involving the ATP2A2 gene. The mutation in ATP2A2 is usually inherited from a parent, and can be passed on. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Veronica Kinsler, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Darier disease in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also join our online community in our closed Facebook group