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.
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- 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.
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