Therapeutic Focus

Inherited epidermolysis bullosa (EB) is a group of genetic disorders characterised by fragility of the skin. Recurrent blister formation results from even minor trauma to the skin, which in turn can cause chronic wounds, infection and scarring. Depending on the EB subtype, patients can experience ongoing pain, disability, corneal lesions, oesophageal strictures, compromised nutrition, failure to thrive, growth retardation and debilitating hand and foot deformities. Patients with recessive dystrophic epidermolysis bullosa (RDEB) are also at high risk of developing skin-derived squamous cell carcinomas that are particularly aggressive and invasive, and are a major cause of death in this patient population. There are currently no available treatments for EB that target the mechanisms of skin fragility and blister formation.

Inherited EB is caused by mutations to structural proteins in the skin. Patients with dystrophic EB have mutations within the gene for type VII collagen, resulting in deficient or absent anchoring fibrils. Separation of the epidermis from the dermis can occur with even minor trauma, resulting in blister formation.

For further information on EB:
Kopecki Z, Murrell DF & Cowin AJ Raising the roof on epidermolysis bullosa (EB): a focus on new therapies Wound Practice and Research 17(2) (