Management of esophageal stenosis in recessive dystrophic epidermolysis bullosa

Abstract

Total replacement of the esophagus by colonic interposition has been recommended as the treatment of esophageal obstruction in recessive dystrophic epidermolysis bullosa. We report our experience in the conservative management of esophageal blisters, strictures, and complete occlusion in 5 patients (aged 2-61 yr). Our therapy consists of a combination of the following principles: (a) inhibition of collagenase formation by oral phenytoin to reduce epithelial detachment; (b) pureed or semiliquid food because minor trauma by hard food particles may induce blistering and result in scarring of the upper esophagus, and larger food particles may obstruct an esophageal stricture; (c) avoidance of tangential shearing forces induced by bougienage and endoscopy and instead use of inflatable dilatator balloons which produce vertical pressure that seems to be less harmful; and (d) long-term nasogastric tube feeding, which may relieve even tight strictures. Our observations suggest that successful long-term conservative management of esophageal stenoses in dystrophic epidermolysis bullosa is possible.