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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Darier disease


Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
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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 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

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

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 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:  

  • GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  • The American College of Medical Genetics has a searchable database of US genetics clinics.  
  • The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Last updated: 12/13/2012

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.[2]
Last updated: 8/21/2009

References