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Epidermolysis Bullosa Acquisita

  • Olivia Y. Lai
  • Michael Kasperkiewicz
  • Brittney K. DeClerck
  • Mei Chen
  • David T. WoodleyEmail author
Chapter

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.

Keywords

Epidermolysis bullosa Type VII collagen Anchoring fibrils 

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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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  • Olivia Y. Lai
    • 1
  • Michael Kasperkiewicz
    • 2
  • Brittney K. DeClerck
    • 3
  • Mei Chen
    • 4
  • David T. Woodley
    • 5
    Email author
  1. 1.Department of DermatologyUSC Keck School of MedicineLos AngelesUSA
  2. 2.Department of DermatologyUniversity of LübeckLübeckGermany
  3. 3.Department of Pathology and DermatologyKeck School of Medicine of the University of Southern CaliforniaLos AngelesUSA
  4. 4.Department of DermatologyUniversity of Southern CaliforniaLos AngelesUSA
  5. 5.Department of DermatologyKeck School of Medicine, University of Southern CaliforniaLos AngelesUSA

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