Esophageal Stricture in a 5 Year Old Child With Epidermolysis Bullosa- Case Report of a Rare Complication at a Very Young Age

Introduction: 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 fairly early complication in a 5-year-old child. Case Presentation: A 5-year-old girl with genetically confirmed RDEB presented with four 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. Conclusion: 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. Vigilance for early esophageal involvement in young RDEB patients is essential for timely intervention.