The exact mechanism by which this abnormal gene causes the disease is still under investigation but it appears that the way in which skin cells join together may be disrupted. This gene codes for the SERCA enzyme or pump (SarcoEndoplasmic Reticulum Calcium-ATPase) that is required to transport calcium within the cell. The abnormal gene in Darier disease has been identified as ATP2A2, found on chromosome 12q23-24.1. The chance of a child inheriting the abnormal gene if one parent is affected is 1 in 2 (50%) but not all people with the abnormal gene will develop clinical features of the disease. Darier disease is inherited in an autosomal dominant pattern, which means that a single gene passed from one parent causes the condition. The onset of skin changes is usually in adolescence. Darier disease typically presents with scaly crusted papules in a seborrhoeic distribution and in skin folds.Īlso known as Darier–White disease, Darier disease was previously called ‘ keratosis follicularis’, but this is incorrect because the scaly papules do not arise from hair follicles. Darier disease is an autosomal dominant genetic disorder classified as a hereditary acantholytic dermatosis.
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