2026-07-08 | Esophageal Stricture in a 5-Year-Old Child with Epidermolysis Bullosa: Case Report of a Rare Complication at a Very Young Age.
Epidermolysis bullosa (EB) represents a group of rare inherited mechanobullous disorders characterized by extreme skin and mucosal fragility. Dystrophic EB (DEB), caused by mutations in the COL7A1 gene, often leads to cycles of blistering, healing, and scarring with multisystem involvement, including the gastrointestinal tract. Esophageal strictures are not uncommon in recessive DEB (RDEB), appearing after the first decade of life (∼12.6 years). We describe a relatively early complication in a 5-year-old child. A 5-year-old girl with genetically confirmed RDEB presented with 4 months of progressive dysphagia, vomiting, and retrosternal pain, more pronounced with solids. Her disease history included severe skin fragility since birth, scarring, and autoamputation of toes. Examination showed multiple healed ulcers, mitten deformities of all limbs, dental caries, and bilateral corneal opacities. Laboratory evaluation revealed anemia (Hb 7.7 g/dL). Barium swallow demonstrated a short mid-esophageal stricture; upper gastrointestinal endoscopy confirmed focal narrowing at 14 cm from the incisors. Endoscopic balloon dilatation up to 8 mm using a controlled radial expansion was performed, and the patient was initiated on oral losartan (8 mg/day) to reduce transforming growth factors-β-mediated fibrosis and stricture recurrence. Serial dilatations were planned at 3-week intervals. This case represents one of the youngest reported presentations of esophageal stricture in RDEB. The combination of early endoscopic balloon dilatation and adjunct antifibrotic therapy with losartan may reduce recurrence and improve nutritional outcomes. Monitoring for early esophageal involvement in young patients with RDEB is essential for timely intervention.
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2026-06-30 | Clinical outcomes of gentamicin therapy in dystrophic Epidermolysis Bullosa: a case-based literature review
Introduction: Epidermolysis bullosa (EB) comprises a group of inherited disorders characterized by skin fragility and blister formation resulting from mutations in proteins essential for dermoepidermal adhesion. Dystrophic EB (DEB), particularly its recessive form (RDEB), is caused by mutations in the COL7A1 gene, leading to defective type VII collagen and impaired anchoring fibrils. Clinically, severe forms are associated with chronic wounds, scarring, pseudosyndactyly, mucosal involvement, and increased risk of cutaneous squamous cell carcinoma. Current therapeutic options remain limited and largely supportive. Gentamicin has emerged as a potential disease-modifying therapy due to its ability to induce translational readthrough of nonsense mutations, restoring partial production of functional collagen VII. This study aims to analyze published cases of EB treated with gentamicin and identify patterns in clinical response and therapeutic outcomes. Methodology: A case-based literature review was conducted, including studies published between 2020 and 2026, retrieved from the PubMed and SciELO databases, in English, Portuguese, and Spanish. Patients with severe generalized dystrophic epidermolysis bullosa treated with gentamicin were included. Extracted variables comprised age, sex, EB subtype, genetic mutation, route of administration (topical or intravenous), treatment duration, methods used to assess response (including immunofluorescence, quality of life scales, and pain scores), collagen VII expression before and after treatment, clinical improvement, adverse effects, and follow-up duration. Data from four studies were compiled into a comparative table to identify trends in therapeutic response and safety outcomes. Discussion: Across the analyzed cases, gentamicin therapy was consistently associated with increased expression of type VII collagen and corresponding clinical improvement, including enhanced wound healing and reduction of mucocutaneous lesions. These findings support its mechanism of action as a readthrough agent that partially restores protein synthesis in patients with nonsense mutations in COL7A1. Both topical and intravenous routes demonstrated therapeutic benefit, although with different clinical profiles. Topical administration was predominantly associated with localized improvement, particularly in oral and cutaneous lesions, reflecting its direct action on treated areas. In contrast, intravenous administration was associated with more systemic effects. Despite these promising findings, variability in treatment response was observed, likely influenced by mutation type, disease severity, and differences in treatment protocols. Additionally, methodological heterogeneity across studies, such as variation in biopsy sites, outcome measures, and duration of therapy, limits direct comparability. Importantly, no significant adverse effects were reported across the included studies, suggesting a favorable short-term safety profile. Some studies also demonstrated maintenance of collagen VII expression after treatment discontinuation, although without evidence of progressive improvement over time. Conclusion: Gentamicin appears to be a promising therapeutic strategy for patients with dystrophic epidermolysis bullosa, particularly those with nonsense mutations in COL7A1. The available evidence demonstrates increased collagen VII expression and associated clinical improvement, regardless of the route of administration. The absence of significant adverse effects supports its short-term safety. However, further large-scale and controlled studies are needed to establish standardized treatment protocols and confirm long-term efficacy.
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2026-06-28 | Identification of a long-term surviving human mesenchymal stromal cell subpopulation and implications for recessive dystrophic epidermolysis bullosa treatment.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by loss-of-function pathogenic variants in COL7A1 encoding type VII collagen (C7). Patients with RDEB suffer since birth from skin and mucosal blistering and develop severe local and systemic complications resulting in poor prognosis. Mesenchymal stromal cells (MSCs) have demonstrated their potential to enhance wound healing and reduce skin inflammation in RDEB patients due to their anti-inflammatory properties and capacity to express C7. We aim to optimize in vitro conditioning of human bone marrow-derived MSCs (BM-MSCs) to improve their limited survival following local injection in a murine model. BM-MSCs from healthy human donors were transduced with a lentiviral vector encoding firefly luciferase and mCherry reporter proteins and then subjected to various culture conditions: monolayer on plastic or spheroid culture, either in hypoxia (5% O2) or in normoxia (21% O2). These cells were subsequently injected intradermally (ID) in immunodeficient mice and their survival was assessed by in vivo imaging. BM-MSCs populations were analyzed prior to injection by single-cell RNA sequencing (scRNAseq). Murine skin injected with BM-MSCs were sampled two months post-injection and the surviving subpopulations were characterized by spatial transcriptomic. scRNAseq analysis revealed marked variations between monolayer and spheroid conditions, which were significantly impacted by oxygen level. Although most injected cells gradually died within the first 2 months in all tested conditions, 1% of live bioluminescent cells persisted for 54 up to 61 weeks post-injection. Spatial transcriptomics data analysis demonstrated that all surviving cells, regardless of their in vitro preconditioning, retained the expression of the MSC markers THY1, ENG, and NT5E, shared features with fibroblasts, and exhibited enriched expression in genes related to extracellular matrix and collagen fibril organization, which are key processes in wound healing. Spatial transcriptomic and scRNAseq data integration suggested that surviving BM-MSCs were initially present in the injected population, regardless of their culture condition. Remarkably, none of the in vitro preconditioning strategies appeared to affect their survival capacity or functional properties following local injection. The identification and characterization of a BM-MSC subpopulation capable of long-term survival following ID injection hold promise for the development of improved cell therapy protocols for RDEB.
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