[Mucous membrane pemphigoid with ocular involvement. Part I: Clinical manifestations, pathogenesis and diagnosis].
Mucous membrane pemphigoid is a subepidermal blistering autoimmune disorder characterized by predominant involvement of mucous membranes and the presence of autoantibodies against proteins of the dermal-epidermal junction. Lesions most frequently develop in the oral cavity followed, in descending order of frequency, by conjunctiva, nasopharynx, the anogenital region, skin, larynx, and oesophagus. When the lesions are restricted to the conjunctiva, the term ocular pemphigoid may be applied. Cicatrization of the plica is considered a pathognomonic sign in early disease. Recurrent conjunctival inflammation results in subepithelial fibrosis, which leads to fornix shortening, symblepharon formation and subsequent trichiasis and entropion. Even in the absence of conjunctival inflammation, ankyloblepharon may occur. In end stage disease, limbal stem cell deficiency, tear deficiency, and lid malpositions may occur and result in a total keratinization of the ocular surface. The diagnosis is based on clinical findings and the detection of linear deposits of IgG and/or IgA and/or C3 at the dermal-epidermal junction by direct immunofluorescence microscopy of a perilesional biopsy. Autoantibodies (against type XVII and VII collagen, laminin 5 and 6, alpha6beta4 integrin, BP230) have been detected in patient serum. In the case of ocular involvement, preferential reactivity against beta4 integrin has been described.
Schmidt
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Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie, Julius-Maximilians-Universität Würzburg, Würzburg, Deutschland.
Meyer-Ter-Vehn
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T
Zillikens
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D
Geerling
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G
D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000097:blood; D001706:Biopsy; D015153:Blotting, Western; D003176:Complement C3 / Q000032:analysis; D003228:Conjunctiva / Q000473:pathology; D003229:Conjunctival Diseases / Q000175:diagnosis / Q000209:etiology / Q000276:immunology / Q000473:pathology; D003937:Diagnosis, Differential; D004774:Entropion / Q000175:diagnosis; D005260:Female; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007074:Immunoglobulin G / Q000032:analysis; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D009092:Mucous Membrane; D010390:Pemphigoid, Benign Mucous Membrane / Q000150:complications / Q000175:diagnosis / Q000209:etiology / Q000276:immunology / Q000503:physiopathology; D012008:Recurrence
D001323:Autoantibodies; D003176:Complement C3; D007070:Immunoglobulin A; D007074:Immunoglobulin G