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Epidermolysis Bullosa Acquisita

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Abstract

Epidermolysis bullosa acquisita (EBA) is a blistering skin disease that is caused by an autoantibody to type VII collagen (C7). C7 is the main component of large structures called anchoring fibrils localized at the dermal-epidermal junction (DEJ) of skin and critical for epidermal – dermal adherence. Classically, EBA presents as a mechanobullous disease with skin fragility and scarring reminiscent of hereditary dystrophic epidermolysis bullosa (DEB) or porphyria cutanea tarda. Nevertheless, if the disease is defined as autoimmunity to type VII collagen, EBA can have clinical presentations that are reminiscent of inflammatory bullous pemphigoid (BP), mucous membrane pemphigoid (MMP), and Brunsting-Perry pemphigoid. Very rarely, EBA involving IgA autoantibodies to C7 presents clinically similar to linear IgA bullous dermatosis (LABD) with small pruritic symmetrical papulovesicles. Anecdotal reports have linked EBA to several underlying systemic diseases with the most common being inflammatory bowel disease (IBD) and systemic bullous erythematosus (SLE). Interestingly, in the gastrointestinal track there is an anchoring fibril equivalent composed of C7, and patients with Crohn’s Disease and other IBDs have anti-C7 antibodies in their plasma. EBA is diagnosed using salt-split skin indirect and direct immunofluorescence (IIF and DIF), ELISA or Western blot analysis to detect anti-C7 antibodies in the blood, and, at research centers, by immuno-electron microscopy. EBA is notoriously difficult to treat. Systemic steroids and immunosuppressant agents (azathiaprine, mycophenolate mofetil, cyclophosphamide, and methotrexate) are inconsistently effective. Colchicine and cyclosporine may be helpful, but the former cannot be used in patients who have concomitant IBD and the latter requires very high doses. Other treatments with varying success include dapsone, photophoresis, IVIG and plasmapheresis. Recently, rituximab, an anti-CD20 monoclonal antibody, has shown promise in EBA.

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Abbreviations

BMZ:

Basement membrane zone

BP:

Bullous pemphigoid

C7:

Collagen VII

CBDC:

Chronic bullous disease of childhood

CP:

Cicatricial pemphigoid

CsA:

Cyclosporin A

DEB:

Dystrophic epidermolysis bullosa

DIF:

Direct immunofluorescence

EB:

Epidermolysis bullosa

EBA:

Epidermolysis bullosa acquisita

ECP:

Extracorporeal photochemotherapy

ELISA:

Enzyme-linked immunosorbent assay

EM:

Electron microscopy

GI:

Gastrointestinal

HLA:

Human leukocyte antigen

IBD:

Inflammatory bowel disease

IEM:

Immunoelectron microscopy

IgG:

Immunoglobulin G

IIF:

Indirect immunofluorescence

IVIG:

Intravenous immunoglobulin

LABD:

Linear IgA bullous dermatosis

mg/m2 :

Milligrams per square meter

PCT:

Porphyria cutanea tarda

SLE:

Systemic lupus erythematosus

SSS:

Salt-split skin

TNF-α:

Anti–tumor necrosis factor-α

TPMT:

Thiopurine methyltransferase

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Correspondence to David T. Woodley MD .

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Lai, O.Y., Kasperkiewicz, M., DeClerck, B.K., Chen, M., Woodley, D.T. (2016). Epidermolysis Bullosa Acquisita. In: Sami, N. (eds) Autoimmune Bullous Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-26728-9_8

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