Darier disease

What causes Darier disease?

Darier disease is caused by mutations in the ATP2A2 gene. This gene gives the body instructions to make an enzyme known as SERCA2. This enzyme helps control the level of calcium ions inside cells. Calcium ions act as signals for many cell functions needed for normal development.

Mutations in the ATP2A2 gene affect the amount or function of the SERCA2 enzyme. This enzyme is expressed throughout the body, and it is unclear why mutations in this gene affect only the skin.

The linear form of Darier disease is also caused by ATP2A2 gene mutations, but these mutations are acquired and arise in only some body cells after conception (somatic mutations).

Last updated on 05-01-20

How is Darier disease diagnosed?

Darier disease is usually diagnosed by the appearance of the skin and the family history. It may be mistaken for other skin conditions. The diagnosis may require a skin biopsy. Genetic testing to identify a mutation in the ATP2A2 gene can be used to confirm the diagnosis.

Last updated on 05-01-20

How is Darier disease inherited?

Darier disease is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause symptoms of the disease. In some cases, a person inherits the mutated copy of the gene from a parent. In other cases, the mutation occurs for the first time in a person with no family history of Darier disease. While most people with a mutation develop symptoms, a small proportion of people do not.

When a person with a mutated gene that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene.

The linear form of the disease is typically not inherited and is due to acquired mutations that arise in only some cells of the body, after conception. These are called somatic mutations.

Last updated on 05-01-20

How might Darier disease be treated?

Basic measures to manage Darier disease may include using sunscreen, wearing cool cotton clothing, and avoiding hot environments. Moisturizers with urea or lactic acid can reduce scaling. A low- or mid-potency topical steroid is sometimes useful for inflammation.

The affected skin may smell unpleasant, which may be due to bacteria growing in the rash. If bacterial overgrowth is suspected or there is a lot of crusting, it can be helpful to apply antiseptics or soak in astringents.

Topical medications may include topical retinoids (i.e., adapalene, tazarotene gel, or tretinoin). Topical retinoids may reduce hyperkeratosis within 3 months. However, irritation is a side effect. Other medications may include acitretin, isotretinoin, cyclosporine, or oral retinoids (eg, acitretin, isotretinoin). Oral retinoids have been the most effective medical treatment for Darier disease, leading to reduction of symptoms in 90% of affected people. However, prolonged use is limited due to adverse effects.

Other treatments may include oral antibiotics to clear bacterial infection, oral acyclovir to treat or suppress herpes simplex virus infection; dermabrasion; electrosurgery; and Mohs micrographic surgery for localized areas.

Last updated on 05-01-20


DermNet Darier Disease

You can read more about Darier disease and see images of the skin lesions on DermNet, the website of the New Zealand Dermatological Society Incorporated. DermNet provides facts about the skin for consumers and health professionals.

Last updated on 04-27-20

Name: Foundation for Ichthyosis and Related Skin Types FIRST 2616 North Broad Street
Colmar, PA, 18915 , United States
Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: info@firstskinfoundation.org Url: http://www.firstskinfoundation.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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