Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Severe generalized recessive dystrophic epidermolysis bullosa


Other Names for this Disease
  • Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)
  • RDEB, severe generalized
  • RDEB-sev gen
  • Recessive dystrophic epidermolysis bullosa, severe generalized
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. Additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. Severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene and is inherited in an autosomal recessive pattern.[1] There is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms.[2]

Last updated: 2/5/2014

References

  1. Dystrophic epidermolysis bullosa. Genetics Home Refernce. January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 1/31/2014.
  2. A service of the U.S. National Library of Medicine. Medline Plus. November 20, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/31/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Severe generalized recessive dystrophic epidermolysis bullosa. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Severe generalized recessive dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.

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 Severe generalized recessive dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.