The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database

Background The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales. Objectives To quantify prevalence, incidence and mortality of EB in England and Wales. Methods Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data. Results By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34.8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10.7 per million, junctional EB (JEB) 1 per million and Kindler EB 0.3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32.5, 26.1, 8.9 and 0.9, respectively (total incidence for all types of EB was 67.8 per million). Birth rates fell progressively over the 19-year period for JEB-severe (JEB-S) (r = -0.56) and recessive DEB-severe (r = .0.44) and also for milder types of EB. We observed longer survival in JEB-S over the 19-year period (r(2) = 0.18) with a median survival of 12.7 months over the past 5 years. Conclusions In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB-S may reflect improved multidisciplinary care.