title: Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa.
abstract: Elastic microfibrils containing fibrillin are a part of the fibroreticular network of normal epidermal basement membrane. In dystrophic epidermolysis bullosa (DEB) at least one other fibroreticular component, anchoring fibrils, which contain type VII collagen, is known to be abnormal. We therefore questioned whether elastic microfibrils and fibrillin expression might also be abnormal in DEB. By indirect immunofluorescence, and pre-embedding immunogold electron microscopy using a monoclonal antifibrillin antibody, we found no difference from control samples in either the quantity of the labelling or in the ultrastructural appearances of the immunolabelled fibrils in intact DEB skin. In areas of dermal-epidermal separation, however, we observed a number of thin, fragmented sublamina densa wisp-like structures, which still labelled for fibrillin despite lacking the typical ultrastructural features of normal elastic microfibril bundles. As a consequence of blistering in DEB, elastic microfibril bundles are disrupted, and fragmented microfibrils may still remain attached to the blister roofs. Many of these elastic microfibrils cannot be distinguished from rudimentary or altered anchoring fibrils on morphology alone, and might therefore account for misinterpretation of ultrastructural disorders of the dermal-epidermal junction. We postulate that, in intact skin, elastic microfibrils might contribute to dermal-epidermal adherence, in the absence of normal-functioning anchoring fibrils.
authors.affiliation: Department of Cell Pathology, St John's Institute of Dermatology, UMDS (St Thomas' Campus), St Thomas' Hospital, London.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: L Y
authors.initials: LY
authors.lastname: Sakai
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001485:Basement Membrane / Q000378:metabolism; D002648:Child; D016108:Epidermolysis Bullosa Dystrophica / Q000196:embryology / Q000378:metabolism* / Q000473:pathology; D005260:Female; D000071837:Fibrillins; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000378:metabolism*; D016253:Microscopy, Immunoelectron; D008875:Middle Aged; D012867:Skin / Q000378:metabolism*
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins