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Epidermolysis Bullosa (EB) form a heterogeneous group of rare, sometimes life-threatening inherited skin diseases characterized by skin and mucosal blistering after mild trauma from birth. They display a wide range of disease severity, with multiple local and systemic complications with no satisfactory treatment.
Areas covered
Approaches aiming to restore the functional expression of the defective protein such as ex vivo and in vivo gene therapy, cell therapies, protein replacement and pharmacological approaches have shown promising results. In addition, improved knowledge of EB pathogenesis has open the way to symptom-relief therapies using repurposed drugs in some forms of EB.
Expert opinion
A cure for all forms of EB will remain challenging, but it is anticipated that treatments for EB will rely on pre…