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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Generalized dominant dystrophic epidermolysis bullosa


Other Names for this Disease
  • DDEB, generalized
  • DDEB-gen
  • Dominant dystrophic epidermolysis bullosa, generalized
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, autosomal dominant
More Names
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Inheritance


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How is generalized dominant dystrophic epidermolysis bullosa inherited?

This form of dystrophic epidermolysis bullosa (DEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with autosomal dominant DEB have inherited an altered COL7A1 gene (the gene responsible for DEB) from an affected parent. The remaining 30 percent of affected people have the condition as a result of a new alteration (mutation) in the COL7A1 gene. These cases occur in people with no history of the disorder in their family.[1] 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. Other, more severe types of DEB are inherited in an autosomal recessive pattern.

Individuals interested in learning about their own risk to have a child with this condition should speak with a genetics professional.
Last updated: 3/6/2011

References
  1. Dystrophic epidermolysis bullosa. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 3/4/2011.