Case reports in gastrointestinal medicine · 2026
A Case of Clinically Suspected Epidermolysis Bullosa With Oesophageal Stricture Successfully Managed by Savary-Gilliard Dilatation.
СтатьяНазвание и аннотация: Перевод в очереди
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Faisal Mohammad Abu, Mahpara Sara Tasnim
Аннотация
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.
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.