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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2026-06-26 | Use of Tramadol in Pain Management of Neonates with Epidermolysis Bullosa: A Single-Center Experience.

Background: Inherited Epidermolysis Bullosa (EB) is a wide group of rare genetic disorders characterized by mucocutaneous fragility and blister formation. In neonates with EB, pain control is particularly complex because painful skin lesions coexist with developmental vulnerability, repeated handling, and the need for frequent wound care. Traditional opioid use carries a risk of adverse effects such as respiratory depression. Tramadol, a centrally acting weak opioid with a dual mechanism of action, may offer a safer alternative. Methods: This retrospective observational study analyzed neonates with different EB subtypes admitted to our tertiary neonatal care center between January 2020 and October 2022. Genetic diagnosis was confirmed via next-generation sequencing. Pain was assessed using the Neonatal Infant Pain Scale (NIPS). Tramadol was administered intravenously (1-2 mg/kg bolus or 0.1-0.2 mg/kg/h infusion) before daily wound dressings, then transitioned to oral dosing when appropriate. Pain scores before and after tramadol administration were compared. Results: Six neonates with various EB subtypes were included. All patients received tramadol for procedural pain control. No significant differences in NIPS scores were observed before and after tramadol administration (p = 0.997), indicating adequate pain control, although baseline pain scores were low, limiting interpretation of analgesic efficacy. No immediate adverse events were observed during hospitalization or reported during follow-up. Conclusions: Scheduled tramadol administration appears to be a safe and effective option for pain management in neonates with EB, with no observed hemodynamic or respiratory complications. Given the scarcity of data in this population, our findings highlight the need for multicenter studies to establish standardized analgesia protocols for EB neonates.

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2026-06-23 | O14 Reducing blistering during junctional epidermolysis bullosa by in vivo inhibition of tumour necrosis factor and interleukin-1β signalling

Abstract Introduction and aims Junctional epidermolysis bullosa (JEB) is an inherited, rare blistering disorder caused by loss of laminin-332, a mediator of epidermis–dermis adhesion, causing cutaneous fragility, impaired healing and exacerbating pruritus. Chronic inflammation is prominent, with elevated levels of the inflammatory cytokines tumour necrosis factor (TNF) and interleukin (IL)-1β relative to matched controls, yet in-depth immunological study of JEB is absent. We propose the underlying molecular pathology induces a distinct inflammatory niche, and repurposing TNF and IL-1β signalling inhibitors will improve inflammation and clinical symptoms. Accordingly, we aim to characterize cutaneous leucocyte composition and investigate effects of TNF and IL-1β inhibition on itch, inflammation and cutaneous phenotype. Methods Our inducible Lama3 knockout C57BL/6 murine model of severe, progressive JEB replicates symptoms of the human condition and is employed to investigate cutaneous leucocytes alongside evaluating TNF (adalimumab) and IL-1β (Anakinra) signalling inhibitor treatments on JEB pathology. We developed a murine leucocyte staining panel for spectral flow cytometry alongside a recording system to quantify pruritus during disease progression, a first in JEB research. In preliminary experiments, JEB mice received 2-week courses of adalimumab or anakinra with weekly recordings performed, and cutaneous tissues were harvested for downstream immunohistochemical and flow analyses. Results Blistered JEB skin was dominated by mononuclear phagocytes (prominently Ccr2+ macrophages, F4/80+Ly6clo macrophages, and monocytes), granulocytes, with few lymphocytes. Preliminary experimentation indicates adalimumab treatment arrested exacerbation of pruritus, reduced recruitment of monocytes, eosinophils, basophils and neutrophils, and elevated F4/80+Ly6clo and Ccr2+ macrophages alongside impeding angiogenesis. Conversely, anakinra treatment saw no improvements in pruritus, with mixed effects observed upon inflammatory leucocyte makeup, reducing neutrophil and monocyte infiltration simultaneously with F4/80+Ly6clo and Ccr2+ macrophage populations, while populations of T lymphocytes and eosinophils rose. Conclusions Our data illuminate underlying JEB wound inflammation, indicating repurposing established anti-TNF therapeutics presents a putative opportunity to improve patient quality of life, and that anti-IL-1β treatments may not relieve inflammation during JEB.

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