epidermolysis bullosa of the esophagus: a case report

Abstract

Introduction. Epidermolysis bullosa is a rare skin disease which could be hereditary or acquired with autoimmune mechanism. Even though it is known that epidermolysis bullosa appears on various mucosa, the esophagus is seldom affected. Case report. We reported 19-year-old female patient who had been admitted due to dysphagia and odynophagia to solid food. Erythematous changes with bullae and excoriations could be found on the hands, feet, elbows and knees. The patient underwent barium swallow which revealed retaining of contrast in the valleculas and piriform recesses, as well as dilatation of meso- and hypopharynx - upper achalasia syndrome. The cause was stenosis at the level of upper functional sphincter of the esophagus, 10 mm in length with benign apperance. Small leakage of contrast into the trachea was visible at the later stage of examination, concomitant with volume load of the pharynx. Bullae were not detected. The whole esophagus was fairly uniformly stenotic and had fibrotic appearance. Conclusion. The authors emphasize that barium swallow can provide sufficient information regarding stenosis, dynamics of the disorder, as well as the stage of the disease. Furthermore, we highlight the importance of providing a complete diagnostic strategy in all dermatology patients who could simultaneously have mucous changes.