APSA Paper
Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation

https://doi.org/10.1016/j.jpedsurg.2005.10.007Get rights and content

Abstract

Background

Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder that is associated with significant esophageal strictures, resulting in dysphagia and nutritional failure. Although endoscopically guided balloon dilatation is a widely used treatment, the use of an endoscope carries the risk of oropharyngeal trauma. To minimize this risk, we have eliminated its use.

Method

We reviewed the charts of all RDEB patients who underwent balloon dilatation for esophageal strictures between August 1993 and March 2005. Balloon dilatation procedures were performed under anesthesia and with fluoroscopic control.

Results

We performed 92 dilatations on 25 RDEB patients. Most patients reported immediate relief of symptoms, rapid recovery, and resumption of adequate food intake within 1 day. The mean interval between dilatations was 1 year. Six patients (24%) have required only 1 dilatation, and 1 of these 6 has had a dilatation-free interval of 25 months. One patient with a history of multiple dilatations has remained dilatation-free for 5 years. No procedure-related complications have occurred.

Conclusions

Fluoroscopically guided balloon dilatation is a gentle, safe, effective, and repeatable technique that should be considered as a first line of treatment.

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.

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