JEB is caused by mutations in the integrin α6 (ITGA6), integrin β4 (ITGB4), BPAG2 (COL17A1) and laminin 322 (LAMA3, LAMB3, LAMC2) genes; JEB is a severe blistering disease with recessive inheritance. This evidence concerns the gene COL17A1 and junctional epidermolysis bullosa.