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

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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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
Series:Orphanet Journal of Rare Diseases
Subjects:
Epidermolysis bullosa simplex
Blisters
Clinical trials
Case reports
Online Access:https://doi.org/10.1186/s13023-025-03822-0
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https://doi.org/10.1186/s13023-025-03822-0

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