How is Dominant Dystrophic Epidermolysis Bullosa Inherited?
DDEB is an autosomal dominant condition. One parent of an affected person will usually also have the condition. It is possible for DDEB to appear ‘sporadically’ (to appear for the first time in a person who has no other affected family member). Anyone who has DDEB whether male or female, can pass the condition on to his or her children. Each time a pregnancy occurs, there is a 1 in 2 chance that the child will inherit DDEB. Electron microscopic evaluation reveals skin separation at the level of the sub lamina densa of the basement membrane zone, with normal or decreased number of anchoring fibrils. Mutations are noted in the genes encoding collagen VII either the gene from the mother or from the father. The change that results, decreases the functioning of the anchoring fibrils, but does not eliminate the anchoring fibrils Dominant Dystrophic Epidermolysis Bullosa : There is usually generalized blistering noted at birth. Blistering may be generalized or appear only on the hands, feet,
