weekly_question 28/3/2021

[Admin]

An 8 year old boy with epidermolysis bullosa (EB) develops dysphagia, odynophagia and has lost 5 pounds. A contrast study demonstrates a tight mid-eosphageal stricture.

The most appropriate next step is:

A Esophageal replacement

B Endoscopic application of mitomycin C

C Balloon dilation over a guidewire

D Bougienage dilation over a guidewire

E Gastrostomy tube placement

[Admin]

C

correct

Epidermolysis bullosa (EB) is a family of inherited disorders characterized by skin and mucous membrane fragility caused by protein mutations in the basement membrane. The four major types of EB are EB simplex, junctional EB, dystrophic EB and Kindler syndrome. The diagnosis can be made from a skin biopsy (immunofluorescence antigen mapping and transmission electron microscopy) and genetic mutational analysis.

Esophageal strictures are a complication of EB, most notably of the subtype recessive dystrophic EB (RDEB). In these patients type VII collagen is reduced or absent which leads to blisters and erosions of the squamous epithelium of the skin and esophageal mucosa. When these lesions heal in the esophagus, structuring is often the end result. Nutritional intake may be reduced in concert with the increased caloric demands of wound healing, thus many of these patients are significantly malnourished.

Medical management of EB strictures tends to be supportive. While gastroesophageal reflux may be a contributing factor, treatment with proton pump inhibitors alone will not lead to stricture resolution.

Pneumatic dilation using a high-pressure hydrostatic balloon catheter is the gold standard of treatment. Although used historically, bougienage dilation is now contraindicated in EB patients due to the esophageal damage it causes. The procedural team must be aware of some of the other unique risks including skin injury with intravenous access as well as the potential for a difficult airway associated with microstomia and scarring of the tongue to the floor of the mouth.

Gastrostomy tubes are a useful adjunct to maintaining nutrition and are placed in many patients whose strictures are recurrent or chronically symptomatic. Although mitomycin-C, an antineoplastic antibiotic with anti-fibroblastic activities, has been used to varying effect in patients with anastomotic and caustic esophageal strictures, there is no reported experience with its use in EB strictures.

[Zoher]

Thanks

[Admin]

Feel free to answer the question

[Sharon]

C

[Admin]

C

correct

Epidermolysis bullosa (EB) is a family of inherited disorders characterized by skin and mucous membrane fragility caused by protein mutations in the basement membrane. The four major types of EB are EB simplex, junctional EB, dystrophic EB and Kindler syndrome. The diagnosis can be made from a skin biopsy (immunofluorescence antigen mapping and transmission electron microscopy) and genetic mutational analysis.

Esophageal strictures are a complication of EB, most notably of the subtype recessive dystrophic EB (RDEB). In these patients type VII collagen is reduced or absent which leads to blisters and erosions of the squamous epithelium of the skin and esophageal mucosa. When these lesions heal in the esophagus, structuring is often the end result. Nutritional intake may be reduced in concert with the increased caloric demands of wound healing, thus many of these patients are significantly malnourished.

Medical management of EB strictures tends to be supportive. While gastroesophageal reflux may be a contributing factor, treatment with proton pump inhibitors alone will not lead to stricture resolution.

Pneumatic dilation using a high-pressure hydrostatic balloon catheter is the gold standard of treatment. Although used historically, bougienage dilation is now contraindicated in EB patients due to the esophageal damage it causes. The procedural team must be aware of some of the other unique risks including skin injury with intravenous access as well as the potential for a difficult airway associated with microstomia and scarring of the tongue to the floor of the mouth.

Gastrostomy tubes are a useful adjunct to maintaining nutrition and are placed in many patients whose strictures are recurrent or chronically symptomatic. Although mitomycin-C, an antineoplastic antibiotic with anti-fibroblastic activities, has been used to varying effect in patients with anastomotic and caustic esophageal strictures, there is no reported experience with its use in EB strictures.