Epidermolysis bullosa: diagnosis and prenatal diagnosis

Recent advances in the diagnosis and prenatal diagnosis of severe forms of epidermolysis bullosa (EB) have been reviewed. Using electron microscopy and immunohistochemistry of specific monoclonal antibody, foetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB. Recently, elucidation of the specific gene mutation in affected individuals allowed us to perform DNA-based prenatal diagnosis during the first trimester of pregnancy. Our own experience with prenatal diagnosis of EB at the Special Clinic for Inherited Skin Disorders at Keio University Hospital for the last six years is summarized.