Epidemiology of epidermolysis bullosa in Chile

Abstract

In this manuscript we are presenting the first National Epidermolysis bullosa Epidemiology Study done in South America. Our manuscript describes not only population-level estimates, such as incidence, prevalence, and mortality of EB, but also genetic data which are unique to this under-represented population. We report new data about this rare disease showing comparable life expectancy to wealthier nations, demonstrating the value of specialized EB care centres.