Darier's Disease Online Support Group

Mutations in the ATP2A2 gene cause Darier disease. The APT2A2 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.

Mutations in the ATP2A2 gene result in insufficient amounts of functional SERCA2 enzyme. A lack of SERCA2 enzyme reduces calcium levels in the endoplasmic reticulum, causing it to become dysfunctional. SERCA2 is expressed throughout the body; it is not clear why changes in this enzyme affect only the skin. Some researchers note that skin cells are the only cell types expressing SERCA2 that do not have a "back-up" enzyme for calcium transport. This dependence on the SERCA2 enzyme may make skin cells particularly vulnerable to changes in this enzyme.

The linear form of Darier disease is caused by ATP2A2 gene mutations that are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. There have been no known cases of people with the linear form of Darier disease passing it on to their children.

Read more about the ATP2A2 gene.

Author: Pui-Yan Kwok, MD, PhD, Henry Bachrach Distinguished Professor, Department of Dermatology and Cardiovascular Research Institute, University of California, San Francisco
Coauthor(s): Sarah Fitzmaurice, BS, MS, University of California Davis School of Medicine; Wilson Liao, MD, Assistant Professor, Department of Dermatology, University of California at San Francisco
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Updated: Feb 25, 2009

From the information that I had recieved from the dermatologist, and we had learned through out the two or more years, that Thoams has had this. Some people think that this can cause serious complications which are very rare.

My husband and I was also told that Darier's Diease can result in the bacterial sepsis and Kaposis Varicelliform eruption.

Here is a question that myself and my husband, had asked many times. What is Darier's Disease???