APSA PaperEsophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation
Section snippets
Background
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, inherited, blistering disorder that primarily affects the skin and pharyngoesophageal mucosa. Blistering and scarring occur in response to even minor trauma and have been linked to mutations in the COL7A1 gene, which resides on the short arm of chromosome 3 [1]. This gene codes for type VII collagen, which is a major component of anchoring fibrils responsible for epidermal-dermal adhesion beneath the basement membrane within the
Patients and methods
We reviewed the medical records of all patients diagnosed with RDEB who underwent nonendoscopic fluoroscopically guided balloon dilatation for esophageal strictures between August 1993 and March 2005 at the Cincinnati Children's Hospital Medical Center. Approval for this study was obtained from our institutional review board.
Results
Between August 1993 and March 2005, we performed a total of 92 hydrostatic balloon dilatations on 25 RDEB patients (9 male and 16 female). The median fluoroscopy time required for these procedures was 3.8 minutes. The mean age at first procedure was 10 ± 8 years (range, 2-38 years). Fifteen (60%) of our 25 patients had single strictures; 13 of these 15 strictures were found in the proximal esophagus, 1 in the midesophagus, and 1 in the distal esophagus. Seven patients (28%) had 2 strictures; 5
Discussion
Our extensive experience with fluoroscopically guided balloon dilatation has shown this to be a safe, gentle, effective, repeatable, and minimally invasive technique. Patients and their families have reported immediate relief of symptoms, rapid recovery, and dramatic improvements in the quality of life. Furthermore, many patients who have previously undergone endoscopic procedures have reported this experience to be superior in terms of the level of oropharyngeal comfort and unencumbered
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Presented at the 36th Annual Meeting of the American Pediatric Surgical Association, Phoenix, AZ, May 29-June 1, 2005.