A case of recessive dystrophic epidermolysis bullosa with esophageal stenosis treated with endoscopic bougienage

J Dermatol. 2002 Oct;29(10):628-32. doi: 10.1111/j.1346-8138.2002.tb00192.x.

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

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Dilatation / instrumentation
  • Dilatation / methods*
  • Epidermolysis Bullosa Dystrophica / complications*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Esophageal Stenosis / etiology
  • Esophageal Stenosis / therapy*
  • Esophagoscopy*
  • Female
  • Humans