2026-08-14 | Fragile skin may benefit from decoration
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary blistering disorder characterized by fragility of the skin and mucous membranes due to mutations in the COL7A1 gene, which encodes type VII collagen, the principal component of anchoring fibrils1,2 (Figure 1A). Loss or dysfunction of type VII collagen leads to separation at the dermal-epidermal junction, resulting in chronic wounds, scarring, and progressive multisystem complications. RDEB is associated with substantial morbidity, including strictures in esophagus, pseudosyndactyly (fusion of fingers), nutritional impairment, and an exceptionally high lifetime risk of developing aggressive cutaneous squamous cell carcinoma (cSCC)1,2 (Figure 1A).
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2026-08-07 | Impact of modified SSD soft brace on surgical outcomes and wound healing duration following hand scar contracture release in RDEB patients.
To investigate the clinical efficacy of a modified soft brace incorporating a Silver Sulfadiazine (SSD) oil-based dressing in improving wound healing and home care quality following hand scar contracture release surgery in patients with RDEB. Thirty-five RDEB patients (aged 8-21 years) who underwent hand contracture release between 2017 and 2023 were assigned to Traditional (Vaseline gauze + brace, n = 17) or Modified (SSD dressing + brace, n = 18) groups. Perioperative outcomes, wound healing duration, compliance (RHCS), and recurrence-free survival were compared. Baseline characteristics were comparable. Compared to the Traditional Group, the Modified Group had significantly fewer dressing changes (2.33 ± 0.49 vs. 4.18 ± 0.73, P < 0.001), shorter healing duration (23.33 ± 3.40 vs. 36.24 ± 5.09 days, P < 0.001), lower epithelial stripping rate (11.1% vs. 64.7%, P = 1.6E-3), and no refractory wounds. The Modified Group also showed higher RHCS total scores (84.94 ± 9.62 vs. 46.12 ± 19.12, P < 0.001) and fewer spontaneous nocturnal blisters (11.1% vs. 64.7%). Univariable Cox regression indicated the modified regimen was associated with delayed recurrence. Kaplan-Meier analysis showed delayed recurrence in the Modified Group by log-rank test (P = 0.03), and univariable Cox analysis yielded HR 0.39, 95% CI 0.16-0.95, albeit with wide confidence intervals and limited late-term power. In this retrospective cohort, the SSD-containing non-adherent dressing used with a soft brace was associated with fewer dressing changes, less dressing-related trauma, and better reported tolerance. Prospective controlled studies with validated functional and compliance outcomes are required.
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2026-07-27 | A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa.
Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full-length protein expression in patients with EB. We conducted a systematic review of the effectiveness and adverse effects of gentamicin for wound healing in EB. Six databases were searched to 01 September 2025 for clinical trials investigating gentamicin for EB. Risk of bias was assessed using the ROBINS-I tool, and data were synthesised descriptively. This study was registered with PROSPERO (CRD42024496582). Five studies involving 24 patients with junctional EB or dystrophic EB were included; four were open-label and one was double-blinded. Nineteen of the 24 patients had a known nonsense mutation. Gentamicin was administered topically (two studies), intravenously (two studies) and both topically and intradermally (one study). Wound healing was heterogeneously measured across studies, with all but one showing improved outcomes. All patients demonstrated increased expression of glycoprotein or collagen in skin biopsy specimens after gentamicin treatment. No adverse events were noted. However, four of five studies were at serious risk of bias on ROBINS-I, primarily owing to lack of blinding and absence of control groups, increasing the risk of bias for subjective outcomes such as wound healing. The available evidence suggests gentamicin may improve wound healing in EB caused by nonsense mutations, but the small number of heterogeneous studies precludes high-level evidence. Larger, blinded, randomised trials are required to confirm efficacy and long-term safety.
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2026-07-12 | Management of Pain and Pruritus in Pediatric Recessive Dystrophic Epidermolysis Bullosa.
The current report presents a tailored and efficient pain management strategy for a 7-year old boy with recessive dystrophic epidermolysis bullosa severe generalized. Successful management of pain associated with demanding wound care was achieved through a combination of oral pregabalin, topical gabapentin-lidocaine, and psychological interventions.
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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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