Dystrophic epidermolysis bullosa
Other Names for this Disease
- Epidermolysis bullosa dystrophica
- Dermolytic epidermolysis bullosa
- Epidermolysis bullosa, dermolytic
- Dominant dystrophic epidermolysis bullosa
- Epidermolysis bullosa
- Pretibial epidermolysis bullosa
- Recessive dystrophic epidermolysis bullosa
- Recessive dystrophic epidermolysis bullosa-generalized other
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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. 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.Dystrophic epidermolysis bullosa (DEB) is one of the major forms of
Last updated: 9/29/2015
- Dystrophic epidermolysis bullosa. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 9/28/2015.
- Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.
- Genetics Home Reference (GHR) contains information on Dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
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- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.