Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually 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 (palate), tongue, inside of the cheek, gums, and throat. 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.
Mutations in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for producing an enzyme abbreviated as SERCA2. This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell that is involved in protein processing and transport. The sarcoplasmic reticulum is a structure in muscle cells that assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals.
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.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Roni Gad-Dodiuk is in Haifa, Israel. Gad-Dodiuk is rated as an Elite expert by MediFind in the treatment of Darier Disease. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Darier Disease, Epidermal Nevus, Erythema Multiforme, and Scalded Skin Syndrome.
Martin Cederlof is in Stockholm, Sweden. Cederlof is rated as an Elite expert by MediFind in the treatment of Darier Disease. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Darier Disease, Epidermal Nevus, Bipolar Disorder, and Schizophrenia.
Enzo Errichetti is in Udine, Italy. Errichetti is rated as a Distinguished expert by MediFind in the treatment of Darier Disease. He is also highly rated in 48 other conditions, according to our data. His top areas of expertise are Parapsoriasis, Pityriasis Lichenoides, Pityriasis Lichenoides Et Varioliformis Acuta, and Pityriasis Lichenoides Chronica.
Published Date:updated Last, March
Published By: National Institutes of Health