Epidermolysis bullosa: understanding the disease, diagnosis, and advances in treatment strategies

Epidermolysis bullosa (EB), a group of inherited genetic skin disorders, affects 34.8 individuals per million in the UK. It is characterised by severe skin fragility and blistering, categorised into four groups: simplex, junctional, dystrophic, and kindler. Dystrophic EB (DEB) is initiated via a pathogenic variant in the COL7A1, leading to type VII collagen (C7) deficiency and blistering at the dermal-epidermal junction (DEJ). With no cure and only two FDA-approved therapies, gene editing targeting stem cells offers a promising avenue for a permanent cure.