Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique.
To examine the possibility that differences in the structure and population density of anchoring fibrils (AF) and other components of the dermal-epidermal junction might distinguish between genetically and clinically distinct varieties of dystrophic epidermolysis bullosa (DEB), a controlled ultrastructural morphometric study of nonseparated keratinocyte-associated dermal-epidermal junction was undertaken in a total of 17 patients with DEB. Seven patients had dominant DEB, 3 had localized recessive DEB, and 7 had severe, generalized recessive DEB. Nonlesional, unscarred skin was obtained from standard body regions. Criteria for the identification of AF were a mandatory union with the lamina densa and the presence of central banding and/or fanning of the extremities. No AF were detected in 9 technically suitable samples from patients with severe recessive DEB. Structurally normal AF were present, but significantly reduced in number, in both dominant and localized recessive DEB, compared with site-matched samples from 12 healthy adults. There was no difference in AF characteristics between dominant and localized recessive DEB, or between sites of predilection and nonpredilection for blisters. The presence or absence of albopapuloid lesions in dominant DEB did not influence AF counts. There was no difference in numbers of hemidesmosomes, basal cell plasmalemmal vesicles, or dermal microfibril bundles in any group of DEB patients compared with controls. Thus, although severe mutilating DEB can be distinguished by routine transmission electron microscopy, the dominant and localized recessive forms cannot be differentiated on the basis of AF structure or numbers.
D000328:Adult; D003599:Cytoskeleton / Q000648:ultrastructure*; D003896:Desmosomes / Q000648:ultrastructure; D004817:Epidermis / Q000648:ultrastructure*; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007866:Leg; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D012867:Skin / Q000648:ultrastructure*; D013848:Thigh