Last Reviewed June 9, 2009
Symptoms & Characteristics
Darier disease is a skin disorder characterized by wart-like blemishes on the body. The blemishes are typically yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth, tongue, inside of the cheek, gums, and throat. Additional features can 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 characteristic wart-like blemishes typically appear in late childhood to early adulthood. The severity of the disease varies over time. Affected individuals experience flare-ups alternating with periods when they have fewer blemishes. The appearance of the blemishes is influenced by environmental factors. Most affected people will develop more blemishes during the summertime when they are exposed to heat and humidity. Additional factors that may cause flare-ups include UV light exposure, minor injury or friction (such as rubbing or scratching), and ingestion of certain medications.
On occasion, people with Darier disease may have neurological disorders such as mild mental retardation, epilepsy, and depression. Learning and behavior difficulties have also been reported in some people with Darier disease. Researchers do not know if these common conditions are associated with the genetic changes that cause Darier disease or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes.
A form of Darier disease known as the linear (or segmental) form is characterized by blemishes on localized areas of the skin. In this form, the blemishes are not as widespread. Some people with the linear form have the nail abnormalities that are seen in people with the classic form of Darier disease, but these abnormalities are limited to only one side of the body.
Treatment
The management and treatment of Darier disease depends on the specific symptoms. Early diagnosis, routine surveillance and treatment may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 people in northern England, and 1 in 100,000 people in Denmark.
Genetics & Inheritance
Darier disease is caused by mutations in the ATP2A2 gene.
Darier disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person has a 50% chance with each pregnancy to have an affected child.
In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new, sporadic mutations in the gene. These cases occur in people with no family history of the disorder.
The linear (or segmental) form of Darier disease is typically not inherited but arises from mutations in the body's cells that occur after conception. These alterations are called somatic mutations.
Genetic Testing
Clinical genetic testing for Darier disease may be available
through an in person genetic consultation for people who are considered at risk.
Use our find a genetic professional directory to locate a trained genetic professional
in your area.
Support & More Information
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Alternative Names
- Darier's Disease
- Darier-White disease
- Keratosis Follicularis