부산대학교 도서관

Epidermolysis bullosa (EB) is an inherited skin disease characterized by the sloughing of the outer layer of the skin and the appearance of skin blisters. To learn more about this disorder, skin biopsy samples from 250 EB patients were examined with immunocytochemistry (using GB3 antibody) to determine the presence of a particular protein, BM600. The protein is of interest because it is normally located at the junction between the epidermis and dermis (the outer and next-to-outer skin layers, respectively). The subject group included patients with several EB variants: simplex (49), junctional (68), dominant dystrophic (53), and recessive dystrophic (80). Junctional EB was further classified into three main subtypes: Herlitz, non-Herlitz, and indeterminate forms. The characteristic symptoms of each type are described. Skin samples were also taken from fetuses with junctional EB between 16 and 20 weeks' gestational age. Results showed that GB3 was entirely or significantly absent in specimens from patients with junctional EB, while normal skin and skin from patients with other types of EB showed the presence of the protein. Fetal samples also showed no signs of GB3 staining. Expression of the antigen to which GB3 binds in EB patients with the junctional form appears to vary according to the subtype. It is concluded that GB3 has value as a diagnostic tool for junctional EB in both fetal and postnatal life. Results from using this approach, however, must be confirmed by other methods, which are cited. (Consumer Summary produced by Reliance Medical Information, Inc.)