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Papers of the Week


2022 Jul 15


Orphanet J Rare Dis


17


1

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex.

Authors

So JY, Fulchand S, Wong CY, Li S, Nazaroff J, Gorell ES, de Souza MP, Murrell DF, Teng JM, Chiou AS, Tang JY
Orphanet J Rare Dis. 2022 Jul 15; 17(1):270.
PMID: 35841105.

Abstract

Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age.