Management of epidermolysis bullosa

Abstract

Introduction: Epidermolysis bullosa (EB), a rare inherited disease encompassing many distinct phenotypes and genotypes, is caused by mutations within any of several genes encoding for structural proteins normally present within the epidermis or skin basement membrane zone. In many EB subtypes the disease involves not only skin, but also extracutaneous tissues, resulting in severe morbidity and, in some, premature death. Many conventional medical and surgical interventions are currently employed to enhance wound healing and at least partially correct these extracutaneous complications. However, there are no curative interventions yet known. Several novel molecular approaches are now being studied that might potentially have substantial long-term benefit for these patients, and a few might even possibly lead to a cure.

Areas covered: Current medical and surgical therapies as well as ongoing experimental ones are reviewed, based on a comprehensive literature search employing review articles, book chapters, EB monographs and Medline searches, combining keywords in EB with treatment, therapy, specific organ systems affected in EB, and known areas of active research.

Expert opinion: A variety of medical and surgical interventions optimise the management of wounds and extracutaneous complications. Promising research is now underway exploring the feasibility, safety and efficacy of novel cellular, protein and molecular interventions.

Keywords::

• epidermolysis bullosa
• therapy
• wound healing

Notes

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