Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita

Epidermolysis bullosa acquisita ({EBA)} is a chronic mucocutaneous autoimmune skin blistering disease. The pathogenic relevance of autoantibodies targeting type {VII} collagen ({COL7)} has been well-documented. Therefore, {EBA} is a prototypical autoimmune disease with a well-characterized pathogenic relevance of autoantibody binding to the target antigen. {EBA} is a rare disease with an incidence of 0.2 new cases per million and per year. The current treatment of {EBA} relies on general immunosuppressive therapy, which does not lead to remission in all cases. Therefore, there is a high, so far unmet medical need for the development of novel therapeutic options. During the last 10 years, several novel in vitro and in vivo models of {EBA} have been established. These models demonstrated a critical role of the genetic background, T cells, and cytokines for mediating the loss of tolerance towards {COL7.} Neutrophils, complement activation, Fc gamma receptor engagement, cytokines, several molecules involved in cell signaling, release of reactive oxygen species, and matrix metalloproteinases are crucial for autoantibody-induced tissue injury in {EBA.} Based on this growing understanding of the diseases' pathogenesis, several potential novel therapeutic targets have emerged. In this review, the clinical presentation, pathogenesis, diagnosis, and current treatment options for {EBA} are discussed in detail.