A Case of Recessive Dystrophic Epidermolysis Bullosa with Esophageal Stenosis Treated with Endoscopic Bougienage

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, hereditary, chronic, non-inflammatory mechanobullous disease. Esophageal involvement is invariable in RDEB patients. A 15-year-old girl visited with protracted vesiculobullous skin eruptions since birth. On physical examination, bullae, atrophic scars, milia, crusts and erosions were noted primarily on the distal extremities. Loss of entire nails and syndactyly of the right fourth and fifth toes were seen. Diagnosis of RDEB was confirmed by clinical, histopathologic, immunofluorescent and electron microscopic findings. Endoscopic and esophagographic studies revealed a stenosis and several hemorrhagic bullae and erosions. She successfully underwent bougienage under endoscopic and fluoroscopic control

Esophageal stenosis in epidermolysis bullosum:a challenge for the endoscopist

“…The mechanical dilation of the esophagus can be performed using semirigid or hydrostatic dilators. Recent studies have shown that the treatment of esophageal stenosis with balloon dilation is a straightforward method that offers a medium period of comfort [2,12,13].…”