Epidermolysis bullosa acquisita: Autoimmunity to anchoring fibril collagen

Abstract

Epidermolysis bullosa acquisita (EBA) is a rare and acquired autoimmune subepidermal bullous disease of skin and mucosa. EBA includes various distinct clinical manifestations resembling genetic dystrophic epidermolysis bullosa (DEB), Bullous pemphigus, Brunsting–Perry pemphigoid, or cicatricial pemphigoid. These patients have autoantibodies against type VII collagen (C7), an integral component of anchoring fibrils (AFs), which are responsible for attaching the dermis to the epidermis. Destruction or perturbation of the normal functioning AFs clinically results in skin fragility, blisters, erosions, scars, milia, and nail loss, all features reminiscent of genetic dystrophic epidermolysis bullosa. These anti-C7 antibodies are “pathogenic” because when injected into a mouse, the mouse develops an EBA-like blistering disease. Currently, treatment is often unsatisfactory; however, some success has been achieved with colchicine, dapsone, photopheresis, plasmapheresis, infliximab, rituximab, and IVIG.

Keywords::

• Epidermolysis bullosa acquisita
• type VII collagen
• skin
• anchoring fibrils
• autoimmunity

Acknowledgements

This work was supported by grants RO1 AR47981 (Dr Chen) and RO1 AR33625 (Dr Woodley and Dr Chen) from the National Institutes of Health.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.