Darier disease
Darier Disease
Darier disease (pronounced: dah-ree-ay) is a rare, genetic skin disorder first described by French dermatologist Ferdinand-Jean Darier in the late 19th century.
Etymology
The disease is named after the French dermatologist Ferdinand-Jean Darier who first described the condition in 1889. The term "Darier disease" is often used interchangeably with Keratosis follicularis, another name for the same condition.
Definition
Darier disease is characterized by the presence of small, hard, wart-like blemishes on the skin. These blemishes are usually yellowish in color, oily, and have a strong odor. The blemishes often appear in areas where the skin folds, such as the neck, groin, and under the breasts.
Symptoms
The symptoms of Darier disease can vary greatly from person to person. Some people may have only mild symptoms, while others may experience severe skin problems. Common symptoms include:
- Small, hard, wart-like blemishes on the skin
- Yellowish, oily skin
- Strong odor from the skin
- Skin that is easily irritated or injured
- Red, inflamed skin
- Itching
Causes
Darier disease is caused by a mutation in the ATP2A2 gene. This gene provides instructions for making a protein that is found in many types of cells, including skin cells. The protein plays a crucial role in maintaining the proper balance of calcium within cells. When the ATP2A2 gene is mutated, it disrupts the normal balance of calcium in skin cells, leading to the symptoms of Darier disease.
Treatment
There is currently no cure for Darier disease, but treatments can help manage the symptoms. Treatment options include:
- Topical creams and ointments to help manage skin symptoms
- Oral medications to reduce the severity of skin symptoms
- Light therapy, which uses ultraviolet light to improve skin symptoms
- Surgery to remove particularly bothersome skin lesions
See Also
External links
- Medical encyclopedia article on Darier disease
- Wikipedia's article - Darier disease
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