Diagnosis and treatment of dystrophic epidermolysis bullosa

Abstract

Dystrophic epidermolysis bullosa (DEB) is a severe type of hereditary epidermolysis bullosa (EB) . At present, the type VII collagen gene COL7A1 has been found to be related to the pathogenesis of DEB. Clinical phenotypes of DEB are associated with sites and forms of COL7A1 gene mutations. Besides invasive amniocentesis, non-invasive prenatal diagnosis techniques for DEB have been improving, including ultrasonic examination, isolation of fetal nucleated red blood cells and analysis of cell-free fetal DNA from maternal blood. Recently, new progress has been made in treatments targeting molecular defects in DEB. Key words: Epidermolysis bullosa dystrophica; Genes; Prenatal diagnosis; Therapeutic uses; Prognosis