Darier disease
What are the causes?
Normally, the cells that form the epidermis (top layer of the skin) are held together by special 'glues' and 'cables', like bricks cemented in a wall. In Darier disease, the skin cells are not held together properly and subsequently the skin becomes scaly, lumpy and may blister. Darier disease is caused by a mutation (change) in a gene on chromosome 12 that makes a calcium pump within the skin cells. This pump produces signals that control the complicated operations of the cells. In Darier disease the pump does not work properly leading to faulty signalling in the skin cells.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis ![]()