Epidermolysis bullosa simplex, generalized


Type of disease: Rare conditions

Epidermolysis bullosa simplex, Koebner type is a form of generalized 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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