Epidermolysis bullosa simplex, generalized
Other Names for this Disease
- EBS, generalized
- Epidermolysis bullosa simplex, generalized non-Dowling-Meara
- Epidermolysis bullosa simplex, Koebner type
- Generalized EBS
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epidermolysis bullosa simplex. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. All four major types of epidermolysis bullosa simplex, including the Koebner type, are caused by mutations in the KRT5 and KRT14 genes. This condition is usually inherited in an autosomal dominant fashion.Epidermolysis bullosa simplex, Koebner type is a form of generalized
Last updated: 5/5/2010
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 5/5/2010.
- EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). 2003; http://www.debra.org/simplex#koebner. Accessed 5/5/2010.
- MayoClinic.com has an information page about epidermolysis bullosa. Click on the link above to access this information.
- Genetics Home Reference (GHR) contains information on Epidermolysis bullosa simplex, generalized. 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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