Inherited epidermolysis bullosa

Epidermolysis bullosa (EB) comprises a group of inherited diseases that manifest with skin fragility leading to recurrent blistering. It is caused by mutations in any of the several genes that encode for structural proteins of the basement membrane zone. The abnormalities thereby result in various defects in basement membrane attachment. EB has been classified into four major types based on the ultrastructural location of the defect. Clinical manifestations vary depending on the type and subtype. In severe cases, extracutaneous involvement accompanies blistering. Immunofluorescence microscopy is considered the primary tool for diagnosis because of its increased availability worldwide and relative ease of use compared with electron microscopy. A specimen from a freshly induced blister is needed for proper diagnosis. Advances are being made in research to find a cure for this devastating disease. Until then, the best approach for managing this disease is with a multidisciplinary team, as multiple organs may be involved in some types of EB.