Autoimmunity to type VII collagen: epidermolysis bullosa acquisita.
Epidermolysis bullosa acquisita (EBA) is an acquired, autoimmune, mechanobullous disease with clinical features reminiscent of genetic dystrophic epidermolysis bullosa (DEB). EBA patients have skin fragility, blisters, scars, and milia formation. DEB is due to a genetic defect in the gene-encoding type VII collagen, which makes anchoring fibrils, structures that attach the epidermis and its underlying basement membrane zone onto the papillary dermis. DEB patients have a decrease in normally functioning anchoring fibrils. EBA patients have the same problem, but their decrease in normally functioning anchoring fibrils is because of an abnormality in their immune system in which they produce anti-type VII collagen antibodies that attack their anchoring fibrils. These IgG anti-type VII collagen antibodies are "pathogenic" because when injected into a mouse, the mouse develops an EBA-like blistering disease. EBA has several distinct clinical presentations. It can present with features similar to DEB. It can also present with features reminiscent of bullous pemphigoid, cicatricial pemphigoid, Brunsting-Perry pemphigoid, or IgA bullous dermatosis. Treatment for EBA is unsatisfactory. Some therapeutic success has been reported with colchichine, dapsone, photopheresis, infliximab, and IVIG.
Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. dwoodley@usc.edu
David T
DT
Woodley
Jennifer
J
Remington
Mei
M
Chen
D000818:Animals; D015551:Autoimmunity; D015153:Blotting, Western; D024143:Collagen Type VII / Q000276:immunology*; D004797:Enzyme-Linked Immunosorbent Assay; D016107:Epidermolysis Bullosa Acquisita / Q000209:etiology* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D005455:Fluorescent Antibody Technique; D006801:Humans; D016253:Microscopy, Immunoelectron
D024143:Collagen Type VII