Background

The NHS Epidermolysis Bullosa (EB) service set up in 2002 offers comprehensive, free care to all patients in England and Wales.

Objective

To quantify prevalence, incidence and mortality of EB in England and Wales.

Methods

Demographic data for patients in England and Wales was collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively before that. Vital status was verified using central NHS data.

Results

By March 2021, 2594 individuals were registered, of whom 2361 were living, giving prevalence per million of the population for all EB types of 34.8; EB simplex (EBS) 17, dystrophic EB (DEB) 10.7, junctional EB (JEB) 1 and Kindler EB 0.3. We recorded 1200 babies with EB born since 2002, average incidence per million live births, for EBS, DEB, JEB and Kindler EB being 32.5, 26.1, 8.9, 0.9 respectively, total 67.8 for all types of EB. Birth rates fell progressively over the 19-year period for JEB-severe (JEB-S) (r = - 0.56) and recessive DEB-severe (RDEB-S) (r = -0.44) and also for milder types of EB. We observed longer survival in JEB-S over the 19 years (r2 = 0.18) with a median of 12.7 months over the past 5 years.

Conclusions

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 uptake of genetic counselling advice while that of 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.