Darier DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Darier Disease
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, are hard to the touch, can appear 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 ears. The mucous membranes can also be affected, with blemishes occurring on the roof of the mouth (palate), tongue, gums, and inside the cheeks 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.
Variants (also called mutations) in the ATP2A2 gene cause Darier disease. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}The ATP2A2 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 2 (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. In some cases, an affected person inherits the variant from one affected parent. Other cases result from a new (de novo) variant in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These affected individuals have no history of the disorder in their family.
Johann Gudjonsson, MD, PhD is the Arthur C. Curtis Professor of Molecular Skin Immunology and the Frances and Kenneth Eisenberg Emerging Scholar of the Taubman Medical Research Institute. A graduate of the University of Iceland Medical School, he completed his internship and dermatology residency training at the University of Michigan. Dr. Gudjonsson has served on the faculty of the University of Michigan Department of Dermatology since 2008. He provides general medical dermatology patient care at the University of Michigan Taubman Center and maintains clinical and research interests in inflammatory and autoimmune disorders involving the skin.Dr. Gudjonsson came to the U-M in 2003 as part of an innovative research residency training program. Building upon investigative dermatology training completed in Iceland, Dr. Gudjonsson has been performing basic immunological and genetic work on psoriasis at the U-M. Dr. Gudjonsson's primary research focus is basic immunological and genetic research on psoriasis, with projects directed at improving the diagnosis and treatment of psoriasis. He received the 2007 Young Investigator Award from the American Academy of Dermatology, was named the 2018 Rising Star Lecturer for the Society for Investigative Dermatology and was recipient of the American Skin Association Research Achievement Award in Psoriasis in 2021. Dr. Gudjonsson's research has been supported by research awards from the National Institutes of Health (NIH), the American Skin Association, Dermatology Foundation, Doris Duke Foundation, among others. Dr. Gudjonsson is rated as an Elite provider by MediFind in the treatment of Darier Disease. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Psoriasis, Darier Disease, Benign Chronic Pemphigus, Cutaneous Lupus Erythematosus (CLE), and Vitrectomy. Dr. Gudjonsson is board certified in Dermatology.
Roni Gad-Dodiuk practices practicing medicine in Haifa, Israel. Ms. Gad-Dodiuk is rated as an Elite expert by MediFind in the treatment of Darier Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Darier Disease, Erythema Multiforme, Stevens-Johnson Syndrome, and Scalded Skin Syndrome.
Michael Ziv practices practicing medicine in Afula, Israel. Mr. Ziv is rated as an Elite expert by MediFind in the treatment of Darier Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Darier Disease, Psoriasis, Stevens-Johnson Syndrome, Erythema Multiforme, and Tissue Biopsy.
Summary: Darier disease is a rare genetic skin disease caused by mutations in the ATP2A2 gene. Clinically, patients present with inflammatory and keratotic papules, sometimes erosive and oozing, predominating in seborrheic areas and folds. The lesions are very visible, causing itching and pain and a significant impairment of quality of life. Complications such as superinfections of the skin (bacterial and ...
Published Date: January 12, 2024
Published By: National Institutes of Health