Dominant dystrophic epidermolysis bullosa
Other Names for this Disease
- Dominant dystrophic epidermolysis bullosa, generalized
- DDEB, generalized
- Epidermolysis bullosa dystrophica, autosomal dominant
- Dystrophic epidermolysis bullosa, autosomal dominant
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Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.
Last updated: 4/7/2016
- Dystrophic Epidermolysis Bullosa. Gene Reviews. February 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.