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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
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Overview

Generalized dominant dystrophic epidermolysis bullosa (GDDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. GDDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles.[1] In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of GDDEB may include dystrophic or absent nails,[2] constipation, dental caries and swallowing problems.[1] It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner.[3] Treatment typically includes treating blisters and avoiding infection.[1]
Last updated: 7/22/2011

References

  1. H. M. Horn. Dominant dystrophic epidermolysis bullosa. DebRA International. 2003; http://www.debra-international.org/old/pib2.htm. Accessed 3/5/2011.
  2. M Peter Marinkovich. Epidermolysis bullosa. eMedicine. June 22, 2010; http://emedicine.medscape.com/article/1062939-overview. Accessed 3/5/2011.
  3. Dystrophic epidermolysis bullosa. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 3/4/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Generalized dominant 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Generalized dominant dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DDEB, generalized
  • DDEB-gen
  • Dominant dystrophic epidermolysis bullosa, generalized
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.