Epidermolysis bullosa, rare, complex and now moving into the era of gene therapy.

Epidermolysis bullosa (EB) is a group of rare heritable disorders that make the skin and mucous membranes very fragile. Minor rubbing or trauma causes blisters and erosions, and in more severe subtypes there can be scarring, contractures, mucosal disease and, in adults with recessive dystrophic EB, an increased risk of skin cancer. About one in fifty thousand people in the UK live with EB.

The 2020 international consensus classification recognises four main types: EB simplex, where the split sits within the epidermis; junctional EB, where the split is in the lamina lucida; dystrophic EB, where the split is below the lamina densa; and Kindler EB, which shows mixed cleavage with photosensitivity and poikiloderma. Each type has several subtypes with different genes and severities.

Diagnosis usually starts with a skin biopsy from the edge of a fresh blister, examined with immunofluorescence antigen mapping and, where needed, electron microscopy. This identifies the level of the split and any missing structural protein. Genetic testing through the NHS England commissioned EB service confirms the subtype and supports family counselling and prenatal options.

Care is delivered through NHS England commissioned EB services at Great Ormond Street for children and at St Thomas and Guy’s for adults, with specialist regional support. The mainstay is expert wound care with non-adherent dressings, atraumatic technique and blister lancing, alongside nutrition, pain management, dental, eye, hand and psychological support, and cancer surveillance in RDEB.

Vyjuvek, a topical HSV-1-based gene therapy for dystrophic EB, was FDA approved in 2023 and MHRA approved in 2024, and is being rolled out through commissioned services. Filsuvez, a birch bark extract gel for partial-thickness wounds in DEB and JEB, has been available since 2022. Cell therapies, gene-corrected grafts and other AAV-based approaches remain within specialist trials.

DEBRA UK is the national charity for people living with EB and their families. It provides specialist community EB nurses, family support workers, benefits and housing advice, respite and grants, and connects families with the wider EB community. The commissioned EB services also offer clinical psychology and social work as part of the MDT.