Update on the diagnosis and treatment of inherited epidermolysis bullosa

Abstract

Inherited epidermolysis bullosa (EB)is a group of hereditary skin diseases characterized by increases in skin brittleness and being prone to skin blisters or erosions when the skin is exposed to slight friction or injury. At present, it is classified into four types, namely EB simplex, junctional EB, dystrophic EB and Kindler syndrome. An onion skinning approach is recommended for the diagnosis of inherited epedermolysis bullosa, in which, immunofluorescence mapping is performed firstly, and causative genetic loci are then determined through detection of relevant genes. In its treatment, skin care should be intensified, and medical or surgical treatment may be used to alleviate symptoms. Further development of cell-, protein-and gene-based therapies is expected to bring hope to patients via realization of timely prenatal diagnosis and avoidance of adverse consequences. Key words: Epidermolysis bullosa; Fluorescent antibody technique, direct; Immunohistochemistry; Genetic testing; Drug therapy; Gene therapy