Epidemiology of epidermolysis bullosa in Chile-Reference-Cited by-同舟云学术

Epidemiology of epidermolysis bullosa in Chile

Published:2024-06-11 Issue: Volume: Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Palisson Francis¹²,Yubero María Joao²³,Lecaros Cristóbal¹^ORCID,Krämer Susanne⁴^ORCID,Fuentes Constanza²,Morandé Pilar²,Noya Belkis²,Cofré Glenda²,Castillo Jimena²,Acevedo Francisco⁵^ORCID,Burattini Natalia²,Muñoz Antonella²,Klausseger Alfred⁶^ORCID,Fuentes Ignacia²⁷⁸^ORCID

Affiliation:

1. Department of Dermatology, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo , Santiago , Chile

2. Fundación DEBRA Chile , Santiago , Chile

3. Department of Pediatrics and Pediatric Infectious Diseases, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo , Santiago , Chile

4. Faculty of Dentistry, Universidad de Chile , Santiago , Chile

5. Department of Hematology Oncology, School of Medicine, Pontificia Universidad Catolica de Chile , Santiago , Chile

6. EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University , 5020 Salzburg , Austria

7. Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Pontificia Universidad Católica de Chile , Santiago , Chile

8. Center for Genetics and Genomics, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo , Santiago , 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 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.

Funder

DEBRA

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljae245/58600146/ljae245.pdf

Reference8 articles.

1. Epidemiology of inherited epidermolysis bullosa in Germany;Has;J Eur Acad Dermatol Venereol,2023

2. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database;Petrof;Br J Dermatol,2022

3. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility;Has;Br J Dermatol,2020

4. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest Sephardic ancestry;Warshauer;Am J Med Genet A,2021

5. Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa;Mecklenbeck;J Invest Dermatol,1999

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mini‐implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report;Special Care in Dentistry;2024-07-21