Paracelsus Medizinische Privatuniversität (PMU)

Forschung & Innovation
Publikationen

Epidemiology of epidermolysis bullosa in Chile

#2024
#BRITISH JOURNAL OF DERMATOLOGY

PMU Autor*in
Alfred Klausseger

Alle Autor*innen
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

Fachzeitschrift
BRITISH JOURNAL OF DERMATOLOGY

Kurzfassung

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