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Esophageal replacement in two siblings with epidermolysis bullosa
Esophageal Replacement in Two Siblings With Epidermolysis Bullosa By Richard P. Harmel, Jr
Columbus, Ohio 9 Dystrophic epidermolysis bullosa is an inherited disorder of squamous epithelium that results in dystrophic scarring of the skin after minor trauma. Although severe scarring of the skin is the most common and obvious complication of the disease, esophageal scarring with formation of long strictures may also develop. In two affected siblings, such esophageal strictures occurred and progressed in severity to degrees necessitating esophageal replacement. Each received a preoperative period of total parenteral nutrition, which was continued into the postoperative period. In one, an isoperistaltic segment of right colon was placed substernally in a single stage procedure. In the other, a substernal reversed gastric tube was constructed, also in a single stage. This latter procedure was shorter and technically simpler than the colon interposition. The early postoperative courses in both were complicated by cervical anastomotic leaks, which sealed spontaneously during a period of parenteral nutrition and gastrostomy feedings. Both subsequently developed cervical anastomotic strictures. These were successfully managed by dilatations, and both patients are now tolerating a solid diet. Neither patient experienced problems from endotracheal intubation. Epithelial loss occurred in the skin adjacent to the surgical incision but healed quickly with topical silver sulfadiazine therapy. This report confirms previous reports that esophageal replacement is well tolerated by patients with epidermolysis bullosa and suggests that the reversed gastric tube technique, not previously reported used for this disease, may be preferable to colon esophagoplasty. 9 1 9 8 6 by Grune & Stratton, Inc. INDEX WORDS: Epidermolysis bullosa; esophageal replacement,
ECESSIVE dystrophic epidermolysis bullosa is an inherited disorder of squamous epithelium in which blister formation occurs after trivial trauma, apparently because of a deficiency of anchoring fibrils, which connect the underside of the basal lamina to the upper dermis. Repeated cycles of blistering with slow healing associated with secondary infection and scarring lead to the manifestations of the disorder. These include severe scarring of the skin with acquired syndactyly, and joint contractures. ~In 20% of patients, mucosal surfaces are affected, and esophageal scarring with long strictures may develop, resulting in severe dysphagia. 2 Dilatation of these strictures, since it further traumatizes the esophagus and sets the stage for further scarring, is contraindicated? Esophageal replacement using the colon has been reported several times. 3-5 We report on two siblings with the disorder treated by esophageal replacement including one in whom a reversed gastric tube was used.
R
Journal of Pediatric Surgery, Vol 21, No 2 (February), 1986: pp 175-176
CASE REPORTS
Case 1 This 20-year-old boy first developed blisters at three days of age after minor trauma. Because his older sister was affected, the diagnosis of recessive dystrophic epidermolysis bullosa was made. Over the ensuing years, he developed flexion contractures of joints, bilateral digital fusion, teeth loss, alopecia, and corneal abrasions. In July 1982 he was hospitalized for malnutrition and dysphagia, which had progressed to the point that he could tolerate liquids only. Upper gastrointestinal series at that time confirmed a long stricture of the esophagus. He was treated with total parenteral nutrition via a subclavian catheter. On September 27, 1982, he underwent colon esophagoplasty. The right colon was brought up isoperistaltically, behind the stomach and through a substernal tunnel into the left neck. Sternal and clavicular heads were resected to provide room. The native esophagus was transected, the distal end oversewn and the proximal end anastomosed to the right colon end-to-side with two layers of silk. The distal end of the colon was anastomosed to anterior gastric wall with the EEA stapler (United States Surgical Corp, Norwalk, Conn). A S t a m m gastrostomy and Heinecke-Mikulicz pyloroplasty were performed. Epidermal loss adjacent to the surgical incision was treated with topical silver sulfadiazine and healed quickly. A cervical anastomotic leak developed on postoperative day eight, which closed spontaneously after a period of gastrostomy feedings. Thereafter, liquids were well tolerated. Upper gastrointestinal series disclosed a tight cervical anastomotic stricture, and he underwent esophageal dilatation up to 30 French using Tucker dilators in March 1983. A string was left in place exiting from mouth and gastrostomy for subsequent dilatations. Thereafter, he was able to tolerate a mechanical soft solid diet. Repeat esophageal calibration in August 1983 disclosed no progressive stricture and the string and gastrostomy tube were removed. Subsequently, he has been asymptomatic on a mechanical soft solid diet.
Case 2 This is the 22-year-old sister of case 1. Her recessive dystrophic epidermolysis bullosa was diagnosed shortly after birth and she suffered the same sequelae of dystrophic scarring as she grew older. She had a two- to three-year history of progressive dysphagia associated with weight loss and anemia when first seen in July 1982. Her upper gastrointestinal series at that time disclosed a long esophageal stricture, and she was treated with total parenteral nutrition via a subclavian catheter. She underwent esophageal replacement October 8, 1982 using a reverse gastric tube. This was constructed from the greater curvature of the stomach, based on a
From the Department o f Surgery, Division o f Pediatric Surgery, The Ohio State University College o f Medicine, Children's Hospital, and Children's Hospital Research Foundation, Columbus, Ohio. Address reprint requests to Richard P. Harmel, Jr, MD, Department o f Pediatric Surgery, Children's Hospital, 700 Children's Dr, Columbus, Ohio 43205. ~ 1986 by Grune & Stratton, Inc. 00 2 2- 3 468/86/ 210 2~902150 3.00/0
175
176
RICHARD P. HARMEL, JR
pedicle of gastroepiploic vessels, using multiple applications of the GIA stapler (United States Surgical Corp). The tube was brought up to the neck retrosternally, the native esophagus was divided, the distal end oversewn,and the proximal end anastomosed to the gastric tube with two layers of silk. A Stamm gastrostomy was performed. A small cervical anastomotic leak developed two weeks postoperatively and sealed spontaneously within one week. Liquids were well tolerated but dysphagia for solids was noted. Upper gastrointestinal series disclosed a cervical anastomotic stricture. Esophageal dilatation was accomplished on March 17, 1983. This required passage of a string retrograde guided by a flexible gastroscope introduced through her gastrostomy, followed by antegrade passage of Tucker dilators. The esophagus was dilated to 30 French. Subsequently she tolerated a mechanical soft solid diet well. Esophageal recalibration in August 1983 showed no re-stricture and her string and gastrostomy tube were removed. She continues to tolerate a mechanical soft solid diet. DISCUSSION
We were concerned initially that endotracheal intubation would produce bullae in the pharynx or hypopharynx that would compromise the airway, yet no problems arose even with long operations. Anesthetic induction and emergence were uncomplicated in both patients. Because of the ease with which minor trauma produces loss of epidermis, extreme care is necessary in positioning the patient on the operating table, placing monitoring leads and catheters, placing intravenous lines, and intubating the patient. We placed the patients on sheepskin pads, protected blood pressure cuff sites with cotton padding, and placed femoral arterial and venous lines percutaneously in the operating room secured with sutures. T r a u m a from retractors was avoided as much as possible by providing exposure through generous incisions. The epithelial loss that did occur healed rapidly using silver sulfadiazine dressings. Nursing care was facilitated by placing these patients in our burn unit where such dressings are routine.
Intravenous hyperalimentation through subclavian catheters was valuable in improving nutritional status preoperatively and maintaining it until oral intake could be reestablished. Anastomotic leaks that occurred in both patients sealed spontaneously. Gastrostomy tubes provided very useful access for nutrition while the leaks were sealing and permitted dietary supplementation for extra calories after subclavian catheters were removed. However, in one patient, repeated episodes of cellulitis around the gastrostomy site were troublesome, and in both patients, the gastrostomies failed to close spontaneously after tube removal, and required surgical closure. Esophageal dilatation was readily accomplished postoperatively in both patients using string guided Tucker dilators, with the string brought out orally and through the gastrostomy, and stricture did not recur over the next five months. Presumably with most of the esophagus replaced, mucosal injury and scarring resulting from dilatations of the native diseased esophagus, does not occur. Though the initial hospital courses of these patients were similar, the esophageal replacement procedures were different. The reversed gastric tube procedure took only half as long as the colon esophagoplasty. Fewer anastomoses were necessary, a smaller substernal tunnel was required, no resection of sternal or clavicular heads was necessary, and the caliber of gastric tube was closely matched to the caliber of the native esophagus. The reverse gastric tube may, therefore, be the preferred type of esophageal replacement. This experience confirms previous reports that esophageal replacement is well tolerated in patients with dystrophic epidermolysis bullosa, and significantly improves both the quality of life and the adequacy of nutrition. It also suggests that the reverse gastric tube has significant advantages over colon esophagoplasty.
REFERENCES
1. Pinnel SR, Saood M: Disorders of collagen, in Stanbury JB, Wyngaarden JB, Frederickson DS, et al (eds): Metabolic Basis of Inherited Disease (ed 5). New York, McGraw-Hill, 1983, pp 1425-1449
2. Orlando RC, BozymskiEM, Briggaman RA, et al: Epidermolysis bullosa gastrointestinal manifestations. Am Int Med 81:203 206, 1974 3. Absolon KB, Finney LA, Waddill GM, et al: Esophageal
reconstruction-colon transplant in two brothers with epidermolysis bullosa. Surgery 65:832-836, 1969 4. Schuman BM, Arciniegas E: The management of esophageal complications of epidermolysis bullosa. Am J Dig Dis 17:875 880, 1972 5. Fonkalsrud EW, Ament ME: Surgical management of esophageal stricture due to recessive dystrophic epidermolysis bullosa. J Pediatr Surg 12:I221-1226, 1977
Columbus, Ohio 9 Dystrophic epidermolysis bullosa is an inherited disorder of squamous epithelium that results in dystrophic scarring of the skin after minor trauma. Although severe scarring of the skin is the most common and obvious complication of the disease, esophageal scarring with formation of long strictures may also develop. In two affected siblings, such esophageal strictures occurred and progressed in severity to degrees necessitating esophageal replacement. Each received a preoperative period of total parenteral nutrition, which was continued into the postoperative period. In one, an isoperistaltic segment of right colon was placed substernally in a single stage procedure. In the other, a substernal reversed gastric tube was constructed, also in a single stage. This latter procedure was shorter and technically simpler than the colon interposition. The early postoperative courses in both were complicated by cervical anastomotic leaks, which sealed spontaneously during a period of parenteral nutrition and gastrostomy feedings. Both subsequently developed cervical anastomotic strictures. These were successfully managed by dilatations, and both patients are now tolerating a solid diet. Neither patient experienced problems from endotracheal intubation. Epithelial loss occurred in the skin adjacent to the surgical incision but healed quickly with topical silver sulfadiazine therapy. This report confirms previous reports that esophageal replacement is well tolerated by patients with epidermolysis bullosa and suggests that the reversed gastric tube technique, not previously reported used for this disease, may be preferable to colon esophagoplasty. 9 1 9 8 6 by Grune & Stratton, Inc. INDEX WORDS: Epidermolysis bullosa; esophageal replacement,
ECESSIVE dystrophic epidermolysis bullosa is an inherited disorder of squamous epithelium in which blister formation occurs after trivial trauma, apparently because of a deficiency of anchoring fibrils, which connect the underside of the basal lamina to the upper dermis. Repeated cycles of blistering with slow healing associated with secondary infection and scarring lead to the manifestations of the disorder. These include severe scarring of the skin with acquired syndactyly, and joint contractures. ~In 20% of patients, mucosal surfaces are affected, and esophageal scarring with long strictures may develop, resulting in severe dysphagia. 2 Dilatation of these strictures, since it further traumatizes the esophagus and sets the stage for further scarring, is contraindicated? Esophageal replacement using the colon has been reported several times. 3-5 We report on two siblings with the disorder treated by esophageal replacement including one in whom a reversed gastric tube was used.
R
Journal of Pediatric Surgery, Vol 21, No 2 (February), 1986: pp 175-176
CASE REPORTS
Case 1 This 20-year-old boy first developed blisters at three days of age after minor trauma. Because his older sister was affected, the diagnosis of recessive dystrophic epidermolysis bullosa was made. Over the ensuing years, he developed flexion contractures of joints, bilateral digital fusion, teeth loss, alopecia, and corneal abrasions. In July 1982 he was hospitalized for malnutrition and dysphagia, which had progressed to the point that he could tolerate liquids only. Upper gastrointestinal series at that time confirmed a long stricture of the esophagus. He was treated with total parenteral nutrition via a subclavian catheter. On September 27, 1982, he underwent colon esophagoplasty. The right colon was brought up isoperistaltically, behind the stomach and through a substernal tunnel into the left neck. Sternal and clavicular heads were resected to provide room. The native esophagus was transected, the distal end oversewn and the proximal end anastomosed to the right colon end-to-side with two layers of silk. The distal end of the colon was anastomosed to anterior gastric wall with the EEA stapler (United States Surgical Corp, Norwalk, Conn). A S t a m m gastrostomy and Heinecke-Mikulicz pyloroplasty were performed. Epidermal loss adjacent to the surgical incision was treated with topical silver sulfadiazine and healed quickly. A cervical anastomotic leak developed on postoperative day eight, which closed spontaneously after a period of gastrostomy feedings. Thereafter, liquids were well tolerated. Upper gastrointestinal series disclosed a tight cervical anastomotic stricture, and he underwent esophageal dilatation up to 30 French using Tucker dilators in March 1983. A string was left in place exiting from mouth and gastrostomy for subsequent dilatations. Thereafter, he was able to tolerate a mechanical soft solid diet. Repeat esophageal calibration in August 1983 disclosed no progressive stricture and the string and gastrostomy tube were removed. Subsequently, he has been asymptomatic on a mechanical soft solid diet.
Case 2 This is the 22-year-old sister of case 1. Her recessive dystrophic epidermolysis bullosa was diagnosed shortly after birth and she suffered the same sequelae of dystrophic scarring as she grew older. She had a two- to three-year history of progressive dysphagia associated with weight loss and anemia when first seen in July 1982. Her upper gastrointestinal series at that time disclosed a long esophageal stricture, and she was treated with total parenteral nutrition via a subclavian catheter. She underwent esophageal replacement October 8, 1982 using a reverse gastric tube. This was constructed from the greater curvature of the stomach, based on a
From the Department o f Surgery, Division o f Pediatric Surgery, The Ohio State University College o f Medicine, Children's Hospital, and Children's Hospital Research Foundation, Columbus, Ohio. Address reprint requests to Richard P. Harmel, Jr, MD, Department o f Pediatric Surgery, Children's Hospital, 700 Children's Dr, Columbus, Ohio 43205. ~ 1986 by Grune & Stratton, Inc. 00 2 2- 3 468/86/ 210 2~902150 3.00/0
175
176
RICHARD P. HARMEL, JR
pedicle of gastroepiploic vessels, using multiple applications of the GIA stapler (United States Surgical Corp). The tube was brought up to the neck retrosternally, the native esophagus was divided, the distal end oversewn,and the proximal end anastomosed to the gastric tube with two layers of silk. A Stamm gastrostomy was performed. A small cervical anastomotic leak developed two weeks postoperatively and sealed spontaneously within one week. Liquids were well tolerated but dysphagia for solids was noted. Upper gastrointestinal series disclosed a cervical anastomotic stricture. Esophageal dilatation was accomplished on March 17, 1983. This required passage of a string retrograde guided by a flexible gastroscope introduced through her gastrostomy, followed by antegrade passage of Tucker dilators. The esophagus was dilated to 30 French. Subsequently she tolerated a mechanical soft solid diet well. Esophageal recalibration in August 1983 showed no re-stricture and her string and gastrostomy tube were removed. She continues to tolerate a mechanical soft solid diet. DISCUSSION
We were concerned initially that endotracheal intubation would produce bullae in the pharynx or hypopharynx that would compromise the airway, yet no problems arose even with long operations. Anesthetic induction and emergence were uncomplicated in both patients. Because of the ease with which minor trauma produces loss of epidermis, extreme care is necessary in positioning the patient on the operating table, placing monitoring leads and catheters, placing intravenous lines, and intubating the patient. We placed the patients on sheepskin pads, protected blood pressure cuff sites with cotton padding, and placed femoral arterial and venous lines percutaneously in the operating room secured with sutures. T r a u m a from retractors was avoided as much as possible by providing exposure through generous incisions. The epithelial loss that did occur healed rapidly using silver sulfadiazine dressings. Nursing care was facilitated by placing these patients in our burn unit where such dressings are routine.
Intravenous hyperalimentation through subclavian catheters was valuable in improving nutritional status preoperatively and maintaining it until oral intake could be reestablished. Anastomotic leaks that occurred in both patients sealed spontaneously. Gastrostomy tubes provided very useful access for nutrition while the leaks were sealing and permitted dietary supplementation for extra calories after subclavian catheters were removed. However, in one patient, repeated episodes of cellulitis around the gastrostomy site were troublesome, and in both patients, the gastrostomies failed to close spontaneously after tube removal, and required surgical closure. Esophageal dilatation was readily accomplished postoperatively in both patients using string guided Tucker dilators, with the string brought out orally and through the gastrostomy, and stricture did not recur over the next five months. Presumably with most of the esophagus replaced, mucosal injury and scarring resulting from dilatations of the native diseased esophagus, does not occur. Though the initial hospital courses of these patients were similar, the esophageal replacement procedures were different. The reversed gastric tube procedure took only half as long as the colon esophagoplasty. Fewer anastomoses were necessary, a smaller substernal tunnel was required, no resection of sternal or clavicular heads was necessary, and the caliber of gastric tube was closely matched to the caliber of the native esophagus. The reverse gastric tube may, therefore, be the preferred type of esophageal replacement. This experience confirms previous reports that esophageal replacement is well tolerated in patients with dystrophic epidermolysis bullosa, and significantly improves both the quality of life and the adequacy of nutrition. It also suggests that the reverse gastric tube has significant advantages over colon esophagoplasty.
REFERENCES
1. Pinnel SR, Saood M: Disorders of collagen, in Stanbury JB, Wyngaarden JB, Frederickson DS, et al (eds): Metabolic Basis of Inherited Disease (ed 5). New York, McGraw-Hill, 1983, pp 1425-1449
2. Orlando RC, BozymskiEM, Briggaman RA, et al: Epidermolysis bullosa gastrointestinal manifestations. Am Int Med 81:203 206, 1974 3. Absolon KB, Finney LA, Waddill GM, et al: Esophageal
reconstruction-colon transplant in two brothers with epidermolysis bullosa. Surgery 65:832-836, 1969 4. Schuman BM, Arciniegas E: The management of esophageal complications of epidermolysis bullosa. Am J Dig Dis 17:875 880, 1972 5. Fonkalsrud EW, Ament ME: Surgical management of esophageal stricture due to recessive dystrophic epidermolysis bullosa. J Pediatr Surg 12:I221-1226, 1977