ArticleCase reports in gastrointestinal medicine2026
A Case of Clinically Suspected Epidermolysis Bullosa With Oesophageal Stricture Successfully Managed by Savary-Gilliard Dilatation.
Article in Case reports in gastrointestinal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Epidermolysis bullosa (EB) comprises a heterogeneous group of inherited blistering disorders characterized by skin and mucosal fragility. Oesophageal involvement, though uncommon, is a recognized and potentially debilitating complication. Case Presentation: A 10-year-old girl presented with progressive dysphagia to solid foods of one-and-a-half months duration, against a lifelong history of recurrent bullous skin lesions healing with scarring and nail dystrophy; a younger sibling had similar skin lesions. Upper gastrointestinal endoscopy revealed oesophageal strictures from 18 cm to 22 cm from the incisors (combined length approximately 5 cm), which could not be traversed by the scope. Barium swallow confirmed a tight upper-thoracic stricture with pre- and poststenotic dilatation. Skin biopsy showed a subepidermal vesiculobullous disorder with eosinophils, with direct immunofluorescence negative for IgA, IgG, and C3; genetic testing, immunomapping, and electron microscopy were unavailable. Based on the lifelong cutaneous phenotype, family history and histopathological findings, a diagnosis of clinically suspected inherited EB was made, with the oesophageal stricture considered to be occurring in this context. The patient underwent fluoroscopy-guided, guidewire-assisted Savary-Gilliard bougie dilatation (7, 9, and 11 mm dilators) in a single session, with immediate improvement in swallowing and no procedural complications; Follow-up at 2 weeks demonstrated sustained clinical improvement, and endoscopic follow-up is planned. Conclusion: This case highlights the importance of considering inherited blistering disorders in children with chronic skin fragility and progressive dysphagia and illustrates that careful, staged bougie dilatation can safely relieve EB-associated oesophageal stricture.
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