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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dystrophic epidermolysis bullosa


Other Names for this Disease
  • DEB
  • Epidermolysis bullosa dystrophica
  • Dermolytic epidermolysis bullosa
  • Epidermolysis bullosa, dermolytic
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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.[1][2] 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.[2]
Last updated: 9/29/2015

References

  1. Dystrophic epidermolysis bullosa. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 9/28/2015.
  2. Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DEB
  • Epidermolysis bullosa dystrophica
  • Dermolytic epidermolysis bullosa
  • Epidermolysis bullosa, dermolytic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.