Multicentre phase II open study assessing the efficacy and safety of apremilast in children and adults with epidermolysis bullosa simplex generalised: study protocol for the EBULO study.

ABSTRACT:

Introduction

Epidermolysis bullosa (EB) is a group of rare genetic skin disorders characterised by skin and mucosal fragility, leading to painful blisters and erosions. Among its subtypes, the severe form of EB simplex (EBS-sev, OMIM 131760) is associated with widespread blistering from birth, mucosal involvement and increased neonatal mortality due to infections. EBS is primarily caused by dominant mutations in the KRT5 or KRT14 genes.There is currently no curative treatment for EBS; management is symptomatic and multidisciplinary. Our recent data indicate that EBS-sev is associated with an inflammatory profile involving elevated levels of Th17-polarising cytokines (TGF-β, IL-6, IL-21), suggesting a role for the Th17 immune response in disease pathogenesis.

Methods and analysis

SUBMITTER: Fontas E 

PROVIDER: S-EPMC12612772 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature