Research & Innovation
Publications
Epidemiology of epidermolysis bullosa in Chile
PMU Author
Alfred Klausseger
All Authors
Francis Palisson, Maria Joao Yubero, Cristobal Lecaros, Susanne Kramer, Constanza Fuentes, Pilar Morande, Belkis Noya, Glenda Cofre, Jimena Castillo, Francisco Acevedo, Natalia Burattini, Antonella Munoz, Alfred Klausseger, Ignacia Fuentes
Journal association
BRITISH JOURNAL OF DERMATOLOGY
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 that are unique to this underrepresented population. We report new data about this rare disease showing comparable life expectancy to wealthier nations, demonstrating the value of specialized EB care centres.
Keywords
MUTATIONS