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Diseases

Genetic and Rare Diseases Information Center (GARD)

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.

Your Question

My sister has Darier disease. Is this condition genetic? Are my children at risk to develop this condition? If so, what can be done to help prevent a flare-up?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Darier disease?

Darier disease is an inherited skin condition characterized by wart-like blemishes on the body. They usually first appear in late childhood or early adulthood and often occur on the scalp, forehead, upper arms, chest, back, knees, elbows, and/or behind the ear. Other features of Darier disease may 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. Some people have a more localized form of the disease known as the linear or segmental form. Darier disease is not an infection and the blemishes are not contagious. It is caused by mutations in the ATP2A2 gene and is inherited in an autosomal dominant manner.[1] However, not all people with a mutation in this gene will develop the disease. Treatment is not always needed but may include the use of moisturizers and sunscreen; staying cool; dermabrasion; and/or oral or topical retinoids.[2]
Last updated: 12/15/2015

How is Darier disease inherited?

Darier disease is inherited in an autosomal dominant manner.[1][3] 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.[1] 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.[1]

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.[1]

Last updated: 12/15/2015

Since my sister has Darier disease, are my children at risk to develop this condition?

While individuals who are affected by Darier disease have a 50% chance of passing on the altered gene to each of their offspring, it can sometimes be less straight-forward for other family members. This is due, in part, to the variable expressivity of this condition. This is because there is a small percentage of individuals who have the altered gene but do not express the symptoms. These individuals, although not physically affected by the condition, can pass on the altered gene to their offspring. Still, in most cases, if neither parent is affected, the offspring would have no greater risk than others in the general population. In families with a history of Darier disease, genetic testing may help to clarify the risk. 

To learn more about genetic testing and the specific risks to your children or other members of your family, we recommend consulting with a genetics professional.
Last updated: 8/21/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. 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:
  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
  • The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Last updated: 2/6/2015

Are there ways for individuals at risk for Darier disease to avoid or prevent a flare-up?

The appearance of the blemishes in Darier disease is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summertime when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or scratching; and ingestion of certain medications can also cause an increase in blemishes.[1] Sunscreen, cool cotton clothing, and avoidance of hot environments can help prevent flare-ups, especially during the summer.[3]
Last updated: 8/21/2009

References
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.