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Generalized dominant dystrophic epidermolysis bullosa
Other Names for this Disease
- DDEB, generalized
- Dominant dystrophic epidermolysis bullosa, generalized
- Dystrophic epidermolysis bullosa, autosomal dominant
- Epidermolysis bullosa dystrophica, autosomal dominant
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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. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of GDDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.Generalized dominant dystrophic epidermolysis bullosa (GDDEB) is a type of
Last updated: 7/22/2011
- H. M. Horn. Dominant dystrophic epidermolysis bullosa. DebRA International. 2003; http://www.debra-international.org/old/pib2.htm. Accessed 3/5/2011.
- M Peter Marinkovich. Epidermolysis bullosa. eMedicine. June 22, 2010; http://emedicine.medscape.com/article/1062939-overview. Accessed 3/5/2011.
- 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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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Generalized dominant dystrophic epidermolysis bullosa. Click on the link to go to OMIM and review these resources.
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