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Dystrophic epidermolysis bullosa
Other Names for this Disease
- Dermolytic epidermolysis bullosa
- Epidermolysis bullosa dystrophica
- Epidermolysis bullosa, dermolytic
- Epidermolysis bullosa, pretibial
- Generalized dominant dystrophic epidermolysis bullosa
- Severe generalized recessive dystrophic epidermolysis bullosa
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Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. Researchers classify DEB into three major types. Although the types differ in severity, their features overlap significantly. All three types are caused by mutations in the COL7A1 gene. The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. A milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance.
- Dystrophic epidermolysis bullosa. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed April 22, 2013.
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