Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Darier disease


Other Names for this Disease

  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Darier disease?

What causes Darier disease?

How is Darier disease inherited?

Is genetic testing available for Darier disease?

How is Darier disease diagnosed?

How might Darier disease be treated?

What is Darier disease?

Darier disease is an inherited skin condition characterized by wart-like blemishes on the body usually located on the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. The severity of the disease varies over time. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin.  Darier disease is not an infection and the blemishes are not contagious. Symptoms usually first appear in late childhood or early adulthood. This condition is caused by mutations in the ATP2A2 gene and inherited in an autosomal dominant fashion.[1]
Last updated: 3/6/2014

What causes Darier disease?

Darier disease is caused by mutations in the ATP2A2 gene. The linear form of Darier disease is caused by acquired somatic mutations that occur within the ATP2A2 gene; these mutations usually occur by chance and are not inherited from an affected parent. Various environmental factors may also contribute to flare-ups in affected individuals, especially during the summertime when there is increased exposure to heat and humidity. Flare-ups may also be caused by UV light exposure, friction, minor injuries, and certain medications.[1]
Last updated: 9/14/2011

How is Darier disease inherited?

Darier disease is inherited in an autosomal dominant pattern, which means one copy of the altered ATP2A2 gene in each cell is enough to cause the disorder.[1] Ninety-five percent of individuals who have a mutation in the ATP2A2 gene will exhibit symptoms of Darier disease, although the symptoms vary from person to person.  Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease (variable expressivity), suggesting that other genes or environmental factors affect the expression of Darier disease.[2]
 
A person can have a mutation in the ATP2A2 gene for different reasons.  In some cases, an individual with Darier disease inherits the mutation from one affected parent. Other cases may result from a new mutations (called de novo) in the gene. These cases occur in people with no history of the disorder in their family.[1] 

The linear form of Darier disease is generally not inherited but arises from random mutations in the body's cells that occur after conception. These alterations are called somatic mutations.[1]
Last updated: 7/20/2011

Is genetic testing available for Darier disease?

GeneTests lists the names of laboratories that are performing genetic testing for Darier disease. To view the contact information for the clinical laboratories conducting testing, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 7/20/2011

How is Darier disease diagnosed?

Darier disease is usually diagnosed by its appearance on the skin and family history. Diagnosis may also require a skin biopsy from the affected individual. [3] Genetic testing to identify mutations in the  ATP2A2  gene can also be used to confirm the diagnosis.[2]
Last updated: 7/19/2011

How might Darier disease be treated?

Basic measures to manage Darier disease may include using sunscreen, wearing cool cotton clothing, and avoiding hot environments. Itching is very common. Moisturizers with urea or lactic acid can reduce scaling and hyperkeratosis. A low- or mid-potency topical steroid is sometimes useful for inflammation.[2]

The affected skin may smell unpleasant, particularly in moist areas. The smell is part of the skin condition and does not mean that the skin is dirty. It is probably caused by bacteria growing in the rash. When bacterial overgrowth is suspected or crusting is prominent, application of antiseptics such as triclosan or soaks in astringents such as Burrow or Domeboro solution can be helpful.[2]

Topical medication may include topical retinoids (i.e., adapalene, tazarotene gel, or tretinoin). Recent studies have shown that topical retinoids can reduce hyperkeratosis in 3 months. However, irritation is a side effect.[2]

Other medication may include Acitretin, Isotretinoin, Ciclosporine, or oral retinoids (eg, acitretin, isotretinoin). Oral retinoids have been the most effective medical treatment for Darier disease, achieving some reduction of symptoms in 90% of affected individuals. However prolonged use is limited by their significant adverse effects. Other treatments may include oral antibiotics to clear bacterial infection, oral acyclovir to treat or suppress herpes simplex virus infection, dermabrasion (sanding off the surface of the skin) to smooth the hyperkeratotic lesions, electrosurgery and Mohs micrographic surgery to treat localized areas. Carbon dioxide laser ablation, Er:YAG laser, and photodynamic therapy have also been tried with some success.[4]
Last updated: 3/6/2014

References
  1. Darier disease. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition=darierdisease. Accessed 3/6/2014.
  2. Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. September 21, 2012; http://emedicine.medscape.com/article/1107340-overview. Accessed 3/6/2014.
  3. Stanway A. Darier Disease. DermNet NZ. March 2011; http://www.dermnetnz.org/scaly/darier.html. Accessed 7/11/2011.
  4. Goldsmith, Lowell A., Baden, Howard P.. Darier-White Disease (Keratosis Follicularis) and Acrokeratosis Verruciformis. In: edited by Freedberg, Eisen, Wolff, Austen, Goldsmith and Katz. Fitzpatrick's Dermatology in General Medicine, 6th edition. McGraw Hill Companies; 2003;


Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.