Epidermolysis Bullosa May Be More Common Than Previously Thought

Epidermolysis bullosa
Epidermolysis bullosa
The epidemiologic data on epidermolysis bullosa in the Netherlands has been evaluated.

Epidermolysis bullosa (EB) may be more prevalent than previously realized, according to findings from an analysis of Dutch EB Registry published in the Journal European Academy of Dermatology and Venereology.

The observational study included Dutch patients with EB in the Netherlands who were captured in the Dutch EB Registry from 1988 to 2018. Researchers evaluated epidemiological outcomes in these patients based on complete diagnostic and longitudinal follow-up data. Diagnostic data included clinical features, immunofluorescence, electron microscopy, and mutation analysis data.

In total, 464 patients with EB from the Dutch EB Registry were included in this study. Overall, the incidence rate of EB in the Netherlands was 41.3 per million live births, and the point-prevalence rate of EB was 22.4 per million. Approximately 45.7% of patients were diagnosed with EB Simplex (EBS), 18.8% were diagnosed with Junctional EB (JEB), 34.7% were diagnosed with Dystrophic EB (DEB), and 0.9% were diagnosed with Kindler EB.

The incidence and point-prevalence rates were 17.5 and 11.9 per million live births for EBS, 9.3 and 2.1 per million live births for JEB, 14.1 and 8.3 per million live births for DEB, and 0.5 and 0.2 per million live births for Kindler EB. The majority of patients with EB had a diagnosis that was genetically confirmed (90.5%). During the time period from1988 to 2018, a total of 73 patients with EB had died. The average age at death was 22.9 years vs the average life expectancy of 81.8 years in the Netherlands. Deaths were attributed to EB in 72.6% of patient cases.

A limitation of this study was the inclusion of only registry data for patients in the Netherlands, which may limit the generalizability of the study.

Given this study suggests EB may be more common than previously thought, the researchers suggest this study “emphasizes the importance of thorough reporting systems and registries worldwide, which is invaluable for the design and execution of (upcoming) therapeutic trials.”


Baardman R, Yenamandra VK, Duipmans JC, et al. Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed? Published online October 23, 2020. J Eur Acad Dermatol Venereol. doi:10.1111/jdv.17012