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A Case of Recessive Dystrophic Epidermolysis Bullosa with Esophageal Stenosis Treated with Endoscopic Bougienage
Author(s) -
Lee ChanWoo,
Song KiHoon,
Kim KiHo
Publication year - 2002
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2002.tb00192.x
Subject(s) - medicine , milia , scars , dermatology , syndactyly , lichen sclerosus , epidermolysis bullosa , surgery
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, hereditary, chronic, noninflammatory 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