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Epidermolysis Bullosa: Gastrointestinal Manifestations

ROY C. ORLANDO, M.D.; EUGENE M. BOZYMSKI, M.D.; ROBERT A. BRIGGAMAN, M.D.; and CHARLES A. BREAM, M.D.
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▸Requests for reprints should be addressed to Eugene M. Bozymski, M.D., The University of North Carolina, Chapel Hill, NC 27705.


Ann Intern Med. 1974;81(2):203-206. doi:10.7326/0003-4819-81-2-203
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Eight patients with epidermolysis bullosa dystrophica (recessive) and dysphagia were studied. Cases are described to illustrate that dysphagia may be reversible when caused by bullae formation or permanent when caused by strictures in the esophagus. Despite the persistence of dysphagia and strictures, no evidence of progression was elicited by history or shown by follow-up radiologic studies. Therefore, emphasis is placed on a conservative approach to treatment in these patients. Manometric and radiologic studies for gastroesophageal reflux failed to support the concept that reflux was the major factor in the production of lower esophageal strictures. Attention is drawn to severe constipation with fecal impaction as a prominent clinical feature in some patients with epidermolysis bullosa dystrophica.

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