Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials – a narrative review and systematic update

Abstract Introduction Clinical research on innovative therapies for the rare genodermatosis epidermolysis bullosa (EB) faces significant challenges, including small sample sizes, disease heterogeneity with intra- and inter-individual variability, limited understanding of pathogenic mechanisms and na...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Verena Wally, Tobias Welponer, Hans-Peter Wiesinger, Anja Diem, Konstantin Thiel, Martin Geroldinger, Georg Zimmermann, Julia I. Hummel, Sonja Dorfer, Josefina Piñón Hofbauer, Johann W. Bauer, Martin Laimer
Format:	Article
Language:	English
Published:	BMC 2025-06-01
Subjects:	Epidermolysis bullosa simplex Blisters Clinical trials Case reports
Online Access:	https://doi.org/10.1186/s13023-025-03822-0