Dystrophic epidermolysis bullosa

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Disease Overview

Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype.[5973][3103] New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.[3103]


Synonyms

  • DEB
  • Epidermolysis bullosa dystrophica
  • Dermolytic epidermolysis bullosa
  • Epidermolysis bullosa, dermolytic

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National Organization for Rare Disorders