Dystrophic Epidermolysis Bullosa: Analysis Of Clinical And Genetic Features And Study On The Structure Deficiency Of Basement Membrane Zone

Dystrophic epidermolysis bullosa:analysis of clinicaI and genctic features and study on thestructure deficiency of basement membrane zoneHereditary epidermolysis bullosa is a group of single gene genodermatoses, whichare characteristic of blister because of injuring skin or mucosa. According to thelocatiOI1 of bu11osa. it was divided into epidermolysis bullosa simplex. jLlnctiol1alepidermolysis bullosa. dystrophic epidermolysis bullosa (DEB). Based on the distincthereditary style. DEB is divided into dominant dystrophic epidermoIysis bullosa(DDEB) and recessive dystrophic epidermolysis bullosa (RDEB). DDEB can beincluded in 6 Isoforl11s on the basis of different distribution and form of skin tetter:albopapuIoidea(Pasini)' Cockayne-TOuraine' Bart sydrome' transient buIIousdermolysis of the newborn (TBDN). prurigo. pretibial DDEB.By analyzing their clinical and hereditary characteristic of three DEB familypedigrees collected and reseaching three probands with the technology of tissuepatho1ogy. indirect immunofluorescence (IIF). transmissional elctronic microscope(TEM), we acquired as follows f (l ) Three DEB family pedigrees are in line withautosomal dominant inheritance. (2) Ages of onset in one family pedigrees can bedifferent betwee11 0 and 70 years. (3) There are different DDEB isoforms in eachfamily. (4 ) By immunofluorescence technology using mouse anti-human monoclonalantibody LH 7.2. we discovered that fluorescence at skin BMZ of proband in family lwas strong. exhibiting similarity to normal control, While fluorescence at skin BMZ ofprobands in family 2 and 3 was obviously weak compared with normal control. (5 )Transmissional electronic microscope reveals dermo-epidermal separation below thelamina densa of the basement membrane and diffuse rudimentary anchoring fibrils.We thought that the tecnology of lIF. TEM can help in diagnosing DEB anddistinguishing DDEB from RDEB. Distinct expressivity may result in distinct DDEBisotbrms in diferent patients of identical family.