Severe generalized recessive dystrophic epidermolysis bullosa
Other Names for this Disease
- Recessive dystrophic epidermolysis bullosa, severe generalized
- RDEB, severe generalized
- RDEB-sev gen
- Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)
- Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
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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. There is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms.Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of
Last updated: 2/5/2014
- Dystrophic epidermolysis bullosa. Genetics Home Refernce. January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 1/31/2014.
- 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.
- Genetics Home Reference (GHR) contains information on Severe generalized recessive dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a 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.