Management of Esophageal recessive dystrophic strictures in children with epidermolysis bullosa

Background: Recessive dystrophic epidermolysis bullosa is a rare, genetically transmitted skin disorder characterized by blister formation and scarring in response to minor trauma. One of the most debilitating features of the disease is the development of esophageal strictures, which produces profound dysphagia, exacerbating an already highly compromised nutritional status common to these patients. Due to the extreme fragility of epithelial Surfaces, the optimal therapeutic approach to esophageal strictures in this setting has not been established. Methods: We have developed an approach to treatment of esophageal strictures in children with epidermolysis bullosa combining upper endoscopy using small caliber endoscopes, endotracheal intubation, and fluoroscopically assisted balloon dilatation. We report our experience using this technique in 22 children who have undergone a total of 109 dilatations. Results: Upper endoscopy, endotracheal intubation, and balloon dilatation were well tolerated by even very young children with epidermolysis bullosa. Dysphagia was markedly reduced post-procedure, permitting resumption of normal diet for age, including solids, within six hours of the procedure. Post-procedure recovery has been rapid and does not require admission to the hospital. Complications have been infrequent, minor and limited to the first year of our experience. The mean interval between dilatations for all children is 11 months. All children have gained weight, and have not required steroids or phenytoin. Conclusions: Balloon dilatation is a safe and effective therapy for esophageal Strictures in children with recessive dystrophic epidermolysis bullosa. Limited upper endoscopy and endotracheal intubation are well tolerated by these children. This approach should be considered its primary therapy in this clinical setting.