Epidermolysis bullosa is a rare monogenic dermatosis.The progress in molecular biology has contributed to the revision and perfection of classification of epidermolysis bullosa in 2008.According to the anatomic level of blisters and splits observed under an electron microscope,epidermolysis bullosa are redivided into four types as follows:epidermolysis bullosa simplex,junctional epidermolysis bullosa,dystrophic epidermolysis bullosa,and Kindler syndrome,and each of these types include various subtypes.Now no effective treatment is available for epidermolysis bullosa.Genetic diagnosis and prenatal diagnosis are expected to reduce the incidence rate of epidermolysis bullosa and improve health-related quality of life.
Key words:
Epidermolysis bullosa; Prenatal diagnosis; Molecular biology