Abstract: Hereditary epidermolysis bullosa (EB) is a group of mechanical bullous disease caused by genetic mutations in various structural protein of the skin. The main clinical features are mechanical fragile skin, tension blisters and encrustation. According to the position of the blisters under the electron microscope, epidermolysis bullousa can be divided into four different clinical phenotype: EB simplex, junctional EB, dystrophic EB and Kindler syndrome. To date, 19 caustive genes have been discovered. The pathogenic genes of epidermolysis bullosa and the relationship between genotype and clinical phenotype are reviewed in this article.

Key words: epidermolysis bullosa, genes, phenotype, heredity