Alterations in Gut Microbiome Diversity and Composition in Patients with Epidermolysis Bullosa: A Case-Control Study

Abstract Epidermolysis bullosa (EB) is a rare inherited genodermatosis that affects both the skin and gastrointestinal tract, potentially leading to altered gut microbiota. This study aimed to assess the diversity and composition of the gut microbiome in EB patients compared to healthy controls. Twelve EB patients—six with dystrophic epidermolysis bullosa patients (pDEB) and six with nondystrophic epidermolysis bullosa patients (pNDEB)—and 12 age- and gender-matched healthy controls were included. Fecal samples were collected, and 16S rRNA gene sequencing (V3–V4 region) was performed. Alpha diversity indices revealed a significant reduction in gut microbiota richness in EB patients, particularly in pNDEB, compared to controls. Beta diversity analysis using unweighted UniFrac showed compositional differences between groups, while weighted UniFrac and principal coordinate analysis revealed overlapping clustering patterns. Genus-level comparisons indicated lower relative abundance of Staphylococcus, Corynebacterium , and Prevotella in EB subgroups. These findings suggest that EB is associated with gut microbiota dysbiosis, warranting further investigation into its potential clinical implications and microbial biomarkers.