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Management of esophageal stenosis in recessive dystrophic epidermolysis bullosa
GASTROENTEROLOGY
1984:87:1376-80
Management of Esophageal Stenosis in Recessive Dystrophic Epidermolysis Bullosa GERHARD E. FEURLE, HAGEN WEIDAUER, GERHARD BALDAUF, TILMANN SCHULTE-BRAUCKS, and INGRUN ANTON-LAMPRECHT Klinikum,
University
of Heidelberg,
Heidelberg,
Total replacement of the esophagus by colonic interposition has been recommended as the treatment of esophageal obstruction in recessive dystrophic epidermolysis bullosa. We report our experience in the conservative management of esophageal blisters, strictures, and complete occlusion in 5 patients (aged 2-61 yr). Our therapy consists of a combina[a) inhibition of tion of the following principles: collagenase formation by oral phenytoin to reduce epithelial detachment; [b] pureed or semiliquid food because minor trauma by hard food particles may induce blistering and result in scarring of the upper esophagus, and larger food particles may obstruct an esophageal stricture; (cl avoidance of tangential shearing forces induced by bougienage and endoscopy and instead use of inflatable dilatator balloons which produce vertical pressure that seems to be less harmful; and (d) long-term nasogastric tube feeding, which may relieve even tight strictures. Our observations suggest that successful long-term conservative management of esophageal stenoses in dystrophic epidermolysis bullosa is possible. Recessive dystrophic epidermolysis bullosa is one of the hereditary bullous disorders affecting both skin and esophagus. Minor trauma is followed by blistering and scarring. A genetically altered collagenase, the structural gene of which is located on chromosome 11 (l),is thought to induce collagen dissolution in the papillary dermis and the lamina propria of the mucous membranes and thereby allows easy detachment of the epithelium (Z-6). Recently, it has been shown that treatment with phenytoin reduces
Received Address
November 29. 1983. Accepted July 3, 1984. requests for reprints to: Gerhard E. Feurle.
M.D.. Medizinische Poliklinik, University of Heidelberg, Hospitalstrasse 3, D-6900 Heidelberg, Federal Republic of Germany. 0 1984 by the American Gastroenterological Association 0016-5085/84/$3.00
Federal
Republic
of Germany
skin blistering in these patients (7-9) by suppression of collagenase activity (7) or by inhibition of synthesis or secretion of this enzyme, or both (8,9). In the esophagus, recurring blistering eventually leads to strictures, or complete obstrucweb formation (lo), tion (11). Surgical colonic transplantation has been performed in such cases (12,13), with the conclusion that “total replacement of the thoracic esophagus is the treatment of choice” in these individuals (14). This study presents our experience with conservative management of esophageal stenosis in 5 patients with recessive dystrophic epidermolysis bullosa.
Patients Hashimoto et al. (15,16) and Wirth et al. (17) have previously reported some of the patients from a dermatological point of view. Patient
1
(E. K.; born November 1. 1919)-This female patient as well as one sister [who is receiving treatment elsewhere) has suffered from recessive dystrophic epidermolysis bullosa inversa since birth. Dysphagia, which began in 1949, increased in 1971 due to stenosis of the midesophagus (Figure 1). She was able to swallow only pureed food. By the fall of 1980, the stenosis had progressed so far that liquid food was necessary. After esophageal bougienage [performed elsewhere), oral phenytoin therapy was started and is still being continued to date. The dose (usually 250 mgiday) was adjusted to achieve phenytoin plasma levels of -10 pgiml. In 1963, the patient weighed 45 kg and 20 yr later, 44 kg; height has remained 146 cm. She still requires pureed and semiliquid food. Phenytoin toxicity with high phenytoin plasma levels has occurred several times. Some degree of esophageal stenosis reappeared in 1982 (Figure 1). The frequency and extent of blistering has decreased under the phenytoin therapy; persisting erosions have reepitheiialized. An anal stenosis due to scarring presents no problem.
December
Figure
1984
1.
ESOPHAGUS
1377
Serial radiographs of esophagus of patient 1 with dystrophic epidermolysis bullosa inversa and strictures of different extent and location. Dilatation was performed in December 1980 (12i80). Phenytoin therapy was given until 1983.
Patient
2
(M. C. M.; born September 9, 1963)-This woman has suffered from epidermolysis bullosa dystrophica, Hallopeau-Siemens since birth. Her hands and feet are severely mutilated and microstomia is present. After swallowing of soft, semiliquid food became difficult in 1982, a l-2-mm perforated bead (jade has been useful) fixed to a string with a diameter of -0.5 mm was swallowed and allowed to pass until it appeared at the anus. A Gruntzig arterial angioplasty balloon (Medintag, Zurich) with an outer diameter of 0.6 cm was introduced into the esophagus; the taut thread served as guide. Under fluoroscopic control, the balloon was placed at the lower end of the stenosis, which had been localized previously by radiography. The balloon was then manually insufflated with air from a 20-ml was then released and the syringe for -30 s. Pressure -2 cm. Dilatation was repeated dilator was withdrawn stepwise until the balloon appeared in the pharynx. At removal, we observed some blood on the surface of the balloon. The thread was left in place, and dilatation was repeated a few days later with a 1.2-cm balloon. The thread was then cut and allowed to pass into the digestive tract. The esophagogram before and after this procedure is shown in Figure 2. Dysphagia has disappeared. Phenytoin therapy was started. Follow-up data are not available. Patient
bullosa
IN DYSTROPHIC EPIDERMOLYSIS
3
(E. H.: born dystrophica,
December 1, 1963)-Epidermolysis Hallopeau-Siemens has been present
since birth. Ten years later, severely mutilated hands and feet, microstomia, blisters at the axilla, elbows, and knees, as well as growth retardation were present. In 1980, the esophagus became completely occluded, and the girl was unable to swallow even saliva. At that time, her weight was 37 kg, and her height was 158 cm. Total parenteral nutrition and intravenous phenytoin therapy were started. Repeated efforts to intubate the esophagus with small catheters were unsuccessful. After 3 mo of intravenous nutrition the patient eventually regurgitated gastric acid into the mouth; on the following day, a polyurethane catheter (outer diameter, 1.8 mm; inner diameter, 1.0 mm) was introduced into the esophagus through the nose. In that passage proved painful, general anesthesia was used with the precautions described elsewhere (18). The tube was fixed at the nostril with a suture (length 2-3 cm). The patient was fed continuously with liquid food through the tube. Eight weeks later, a Levin-type duodenal tube (outer diameter 5 mm: inner diameter 2.5 mm) with a cut-off and carefully rounded tip was generously lubricated with gel containing 2% lidocaine and threaded over the polyurethane tube in situ. The previous suture was used again for fixation. Ten months after total occlusion of the esophagus, the patient was able to swallow liquid food alongside the tube. At that time, the tube was removed and the esophagus was dilated with an arterial dilater. as mentioned in patient 2. As of the fall of 1983, the patient has been able to eat soft, semisolid food. The strictures have largely disappeared (Figure 3). Contrary to our advice, the patient has recently discontinued phenytoin therapy. In 1983 her weight was 50 kg and her height was 165 cm.
1378
FELJRLEET AL.
GASTROENTEROLOGY Vol. 87, No. 6
ficulty swallowing, and regurgitated food. Under phenytoin therapy, dysphagia disappeared. No tube treatment has been necessary thus far.
Discussion
3/30/82
4/6/82
Figure 2. Short-term effect of esophageal balloon dilatation in patient 2 with epidermolysis bullosa dystrophica, Hallopeau-Siemens.
Patient
4
(K. H.; born February 8, 1967)-Skin blistering began at birth in this girl, who is a sister of patient 3; the fingers later contracted, the toes became mutilated, and growth was retarded. In 1980, swallowing became extremely difficult. Oral phenytoin therapy was started. In June 1982, a high-grade esophageal stenosis was passed, under general anesthesia, with a 1.8-mm catheter. Four weeks later, a large-caliber feeding tube was threaded over the first tube. Two months later, dilatation was performed. The feeding tubes were removed, and since the fall of 1983, the patient has been able to swallow pureed food. Her weight increased from 37 kg in June 1982 to 40 kg in 1983. Her height is 163 cm. Contrary to our advice, the patient discontinued phenytoin therapy in 1983, allegedly because of insufficient effect. Dysphagia increased somewhat in 1983 (Figure 4).
Patient
5
(M. K.; born June 24, 1980)-This girl with epidermolysis bullosa dystrophica, Hallopeau-Siemens had dif-
Esophageal stenosis may be the most severe complication of recessive dystrophic epidermolysis bullosa in youth and adulthood. As patients learn to live with their skin vulnerability and to avoid mechanical trauma, skin blistering and scarring frequently decrease, as was the case in patients 3 and 4. The most severe damage to hands and feet, which leads to synechias and mutilations, usually occurs when the children are learning to walk. Control of esophageal traumatization, however, is difficult, and strictures and stenosis develop gradually because they are first noticed by the patients at a late stage. Esophageal stenosis and obstruction therefore may eventually become the central problem for these patients, as was the case in patient 3. Our experience indicates that conservative therapy of esophageal stenosis in dystrophic epidermolysis bullosa should include a combination of the following measures: Phenytoin should be administered to suppress the genetically altered dermal collagenase. Although the observation of our patients does not provide definite proof of effectiveness of phenytoin, analogous to the findings in the skin (7-g), oral phenytoin may also reduce vulnerability and blistering in the esophagus. Plasma levels should be maintained at -10 pg/ml (17). Esophageal strictures, however, representing the result of scarring are not amenable to phenytoin treatment. Furthermore, pureed or semiliquid food is essential in that solid food with hard particles may induce shearing forces that lead to epithelial detachment, and larger particles may not pass an esophageal stenosis. Because tangential shearing forces, rather than vertical pressure, lead to detachment of skin and mucous membranes with eventual scar or stricture formation, any bougienage, for example, with the Eder-Puestow instrument or the Malony bougie, as well as endoscopy should be avoided. This opinion has also been expressed by other authors (19). Instead, balloon dilatation at different esophageal levels is recommended. In recurrent strictures, the dilatation procedure may be repeated, if necessary. Due to the extreme vulnerability of the nasal, pharyngeal, and esophageal mucosa, any deviation of instruments from the lumen may lead to epithelial detachment and possibly perforation. Great care therefore was taken in the placement of dilators and tubes. Guide threads were used instead of guide wires. Finally, small nasogastric or nasoduodenal feed-
December
ESOPHAGUS
1984
I ‘igure
3. Complete complete
I‘igure
4. Serial upper
esophageal remission.
radiographs esophagus
occlusion
in patient
3 with
of esophagus in patient 4 with were performed in the summer
dystrophic
epidermolysis
dystrophic epidermolysis of 1982. A new stricture
IN DYSTROPHIC
EPIDERMOLYSIS
bullosa.
Conservative
management
bullosa. occurred
Tube feeding in 1983.
and dilatation
1379
[see text) led
to
of stricture
in
1380
FEURLEET
AL.
ing tubes of increasing size introduced under general intravenous anesthesia proved successful for months in some patients. The presence of such a tube within the esophageal lumen apparently facilitates a reduction of tight stenosis so that the patient can eventually swallow liquids alongside the tube. Even though we have not been able to conduct a controlled study in this rare disorder, our experience, nevertheless, may be useful in the management of such patients. The aim of our report is to demonstrate the effectiveness of tube feeding and esophageal dilatation in the treatment of dystrophic epidermolysis bullosa and to show that intermittent bougienage and surgical intervention can be avoided. Although the prevalence of this disease is only about 1 in 300,000,it presents serious social problems for the affected individuals. Disability is usually severe and life expectancy may be quite high as is the case in our first patient. These patients require lifelong medical attention which includes continuous management of the esophageal complications.
References 1. Church
RL. Bauer EA. Eisen AZ. Human skin collagenase: assignment of the structural gene to chromosome 11 in both normal and recessive dystrophic epidermolysis bullosa cells using human-mouse somatic cell hybrids. Collagen Rel Res 1983;3:115-24. 2. Eisen AZ. Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. J Invest Dermato1 1969;52:449-53. 3. Lazarus GS. Collagenase and connective tissue metabolism in epidermolysis bullosa. J Invest Dermatol 1972:58:242-a. 4. Bauer EA. Gedde-Dahl T Jr, Eisen AZ. The role of human skin collagenase in epidermolysis bullosa. J Invest Dermatol 1977;68:119-24. 5. Bauer EA. Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures. Proc Nat1 Acad Sci USA 1977:74:4646-50. 6. Eisenberg M, Williams JF. Stevens L. Schofield PJ. Mammalian collagenase and peptidase estimation in normal skin and
GASTROENTEROLOGY
Vol.
87, No.
6
in the skin of patients suffering from epidermolysis bullosa. J Int Res Commun 1974;2:1732. 7. Eisenberg M, Stevens LH, Schofield PJ. Epidermolysis bullosa-new therapeutic approaches. Australas J Dermatol 1978;19:1-8. 8. Bauer EA, Cooper TW, Tucker DR, Esterly NB. Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. N Engl J Med 1980;303:776-81. 9. Bauer EA, Cooper TW. Therapeutic considerations in recessive dystrophic epidermolysis bullosa. Arch Dermatol 1981: 117:529-30. 10. Marsden RA, Sambrook Gowar FJ, MacDonald AF. Main RA. Epidermolysis bullosa of the oesophagus with oesophageal web formation. Thorax 1974;29:287-95. 11. Gedde-Dahl T Jr, Anton-Lamprecht I. Epidermolysis bullosa. In: Emery AEH and Rimoin DL, eds. Principles and practice of medical genetics. Edinburgh: Churchill Livingstone. 1983: 672-87. 12. Absolon KB. Finney LA, Waddill GM Jr, Hatchett C. Esophageal reconstruction-colon transplant-in two brothers with epidermolysis bullosa. Surgery 1969;65:832-6. 13. Schuman BM, Arciniegas E. The management of esophageal complications of epidermolysis bullosa. Dig Dis 1972;17:87580. 14. De Leon R, Mispireta LA, Absolon KB. Five year followup of colonic transplants in patients with epidermolysis bullosa producing esophageal obstruction. Med Ann DC 1974;43: 241-4. 15. Hashimoto I, Schnyder UW. Anton-Lamprecht I, Gedde-Dahl T Jr, Ward S. Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976:256:137-50. 16. Hashimoto I, Anton-Lamprecht I, Hofbauer M. Epidermolysis bullosa dystrophica inversa: Bericht iiber zwei Geschwisterfalle. Hautarzt 1976;27:532-7. 17. Wirth H, Nesch A, Ostapowicz B, Anton-Lamprecht I. Phenytointherapie bei rezessiv-dystrophischen Epidermolysen (Epidermolysis bullosa dystrophica Typ Hallopeau-Siemens und Epidermolysis bullosa dystrophica inversa). Z Hautkr 1983;58:555-74. 18. Album MM, Gaisin A, Lee KWT. Buck BE. Sharrar WG. Gill FM. Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery. Oral Surg 1977;43:859-72. 19. Johnston DE, Koehler RE. Balfe DM. Clinical manifestations of epidermolysis bullosa dystrophica. Dig Dis Sci 1981; 26:1144-g.
1984:87:1376-80
Management of Esophageal Stenosis in Recessive Dystrophic Epidermolysis Bullosa GERHARD E. FEURLE, HAGEN WEIDAUER, GERHARD BALDAUF, TILMANN SCHULTE-BRAUCKS, and INGRUN ANTON-LAMPRECHT Klinikum,
University
of Heidelberg,
Heidelberg,
Total replacement of the esophagus by colonic interposition has been recommended as the treatment of esophageal obstruction in recessive dystrophic epidermolysis bullosa. We report our experience in the conservative management of esophageal blisters, strictures, and complete occlusion in 5 patients (aged 2-61 yr). Our therapy consists of a combina[a) inhibition of tion of the following principles: collagenase formation by oral phenytoin to reduce epithelial detachment; [b] pureed or semiliquid food because minor trauma by hard food particles may induce blistering and result in scarring of the upper esophagus, and larger food particles may obstruct an esophageal stricture; (cl avoidance of tangential shearing forces induced by bougienage and endoscopy and instead use of inflatable dilatator balloons which produce vertical pressure that seems to be less harmful; and (d) long-term nasogastric tube feeding, which may relieve even tight strictures. Our observations suggest that successful long-term conservative management of esophageal stenoses in dystrophic epidermolysis bullosa is possible. Recessive dystrophic epidermolysis bullosa is one of the hereditary bullous disorders affecting both skin and esophagus. Minor trauma is followed by blistering and scarring. A genetically altered collagenase, the structural gene of which is located on chromosome 11 (l),is thought to induce collagen dissolution in the papillary dermis and the lamina propria of the mucous membranes and thereby allows easy detachment of the epithelium (Z-6). Recently, it has been shown that treatment with phenytoin reduces
Received Address
November 29. 1983. Accepted July 3, 1984. requests for reprints to: Gerhard E. Feurle.
M.D.. Medizinische Poliklinik, University of Heidelberg, Hospitalstrasse 3, D-6900 Heidelberg, Federal Republic of Germany. 0 1984 by the American Gastroenterological Association 0016-5085/84/$3.00
Federal
Republic
of Germany
skin blistering in these patients (7-9) by suppression of collagenase activity (7) or by inhibition of synthesis or secretion of this enzyme, or both (8,9). In the esophagus, recurring blistering eventually leads to strictures, or complete obstrucweb formation (lo), tion (11). Surgical colonic transplantation has been performed in such cases (12,13), with the conclusion that “total replacement of the thoracic esophagus is the treatment of choice” in these individuals (14). This study presents our experience with conservative management of esophageal stenosis in 5 patients with recessive dystrophic epidermolysis bullosa.
Patients Hashimoto et al. (15,16) and Wirth et al. (17) have previously reported some of the patients from a dermatological point of view. Patient
1
(E. K.; born November 1. 1919)-This female patient as well as one sister [who is receiving treatment elsewhere) has suffered from recessive dystrophic epidermolysis bullosa inversa since birth. Dysphagia, which began in 1949, increased in 1971 due to stenosis of the midesophagus (Figure 1). She was able to swallow only pureed food. By the fall of 1980, the stenosis had progressed so far that liquid food was necessary. After esophageal bougienage [performed elsewhere), oral phenytoin therapy was started and is still being continued to date. The dose (usually 250 mgiday) was adjusted to achieve phenytoin plasma levels of -10 pgiml. In 1963, the patient weighed 45 kg and 20 yr later, 44 kg; height has remained 146 cm. She still requires pureed and semiliquid food. Phenytoin toxicity with high phenytoin plasma levels has occurred several times. Some degree of esophageal stenosis reappeared in 1982 (Figure 1). The frequency and extent of blistering has decreased under the phenytoin therapy; persisting erosions have reepitheiialized. An anal stenosis due to scarring presents no problem.
December
Figure
1984
1.
ESOPHAGUS
1377
Serial radiographs of esophagus of patient 1 with dystrophic epidermolysis bullosa inversa and strictures of different extent and location. Dilatation was performed in December 1980 (12i80). Phenytoin therapy was given until 1983.
Patient
2
(M. C. M.; born September 9, 1963)-This woman has suffered from epidermolysis bullosa dystrophica, Hallopeau-Siemens since birth. Her hands and feet are severely mutilated and microstomia is present. After swallowing of soft, semiliquid food became difficult in 1982, a l-2-mm perforated bead (jade has been useful) fixed to a string with a diameter of -0.5 mm was swallowed and allowed to pass until it appeared at the anus. A Gruntzig arterial angioplasty balloon (Medintag, Zurich) with an outer diameter of 0.6 cm was introduced into the esophagus; the taut thread served as guide. Under fluoroscopic control, the balloon was placed at the lower end of the stenosis, which had been localized previously by radiography. The balloon was then manually insufflated with air from a 20-ml was then released and the syringe for -30 s. Pressure -2 cm. Dilatation was repeated dilator was withdrawn stepwise until the balloon appeared in the pharynx. At removal, we observed some blood on the surface of the balloon. The thread was left in place, and dilatation was repeated a few days later with a 1.2-cm balloon. The thread was then cut and allowed to pass into the digestive tract. The esophagogram before and after this procedure is shown in Figure 2. Dysphagia has disappeared. Phenytoin therapy was started. Follow-up data are not available. Patient
bullosa
IN DYSTROPHIC EPIDERMOLYSIS
3
(E. H.: born dystrophica,
December 1, 1963)-Epidermolysis Hallopeau-Siemens has been present
since birth. Ten years later, severely mutilated hands and feet, microstomia, blisters at the axilla, elbows, and knees, as well as growth retardation were present. In 1980, the esophagus became completely occluded, and the girl was unable to swallow even saliva. At that time, her weight was 37 kg, and her height was 158 cm. Total parenteral nutrition and intravenous phenytoin therapy were started. Repeated efforts to intubate the esophagus with small catheters were unsuccessful. After 3 mo of intravenous nutrition the patient eventually regurgitated gastric acid into the mouth; on the following day, a polyurethane catheter (outer diameter, 1.8 mm; inner diameter, 1.0 mm) was introduced into the esophagus through the nose. In that passage proved painful, general anesthesia was used with the precautions described elsewhere (18). The tube was fixed at the nostril with a suture (length 2-3 cm). The patient was fed continuously with liquid food through the tube. Eight weeks later, a Levin-type duodenal tube (outer diameter 5 mm: inner diameter 2.5 mm) with a cut-off and carefully rounded tip was generously lubricated with gel containing 2% lidocaine and threaded over the polyurethane tube in situ. The previous suture was used again for fixation. Ten months after total occlusion of the esophagus, the patient was able to swallow liquid food alongside the tube. At that time, the tube was removed and the esophagus was dilated with an arterial dilater. as mentioned in patient 2. As of the fall of 1983, the patient has been able to eat soft, semisolid food. The strictures have largely disappeared (Figure 3). Contrary to our advice, the patient has recently discontinued phenytoin therapy. In 1983 her weight was 50 kg and her height was 165 cm.
1378
FELJRLEET AL.
GASTROENTEROLOGY Vol. 87, No. 6
ficulty swallowing, and regurgitated food. Under phenytoin therapy, dysphagia disappeared. No tube treatment has been necessary thus far.
Discussion
3/30/82
4/6/82
Figure 2. Short-term effect of esophageal balloon dilatation in patient 2 with epidermolysis bullosa dystrophica, Hallopeau-Siemens.
Patient
4
(K. H.; born February 8, 1967)-Skin blistering began at birth in this girl, who is a sister of patient 3; the fingers later contracted, the toes became mutilated, and growth was retarded. In 1980, swallowing became extremely difficult. Oral phenytoin therapy was started. In June 1982, a high-grade esophageal stenosis was passed, under general anesthesia, with a 1.8-mm catheter. Four weeks later, a large-caliber feeding tube was threaded over the first tube. Two months later, dilatation was performed. The feeding tubes were removed, and since the fall of 1983, the patient has been able to swallow pureed food. Her weight increased from 37 kg in June 1982 to 40 kg in 1983. Her height is 163 cm. Contrary to our advice, the patient discontinued phenytoin therapy in 1983, allegedly because of insufficient effect. Dysphagia increased somewhat in 1983 (Figure 4).
Patient
5
(M. K.; born June 24, 1980)-This girl with epidermolysis bullosa dystrophica, Hallopeau-Siemens had dif-
Esophageal stenosis may be the most severe complication of recessive dystrophic epidermolysis bullosa in youth and adulthood. As patients learn to live with their skin vulnerability and to avoid mechanical trauma, skin blistering and scarring frequently decrease, as was the case in patients 3 and 4. The most severe damage to hands and feet, which leads to synechias and mutilations, usually occurs when the children are learning to walk. Control of esophageal traumatization, however, is difficult, and strictures and stenosis develop gradually because they are first noticed by the patients at a late stage. Esophageal stenosis and obstruction therefore may eventually become the central problem for these patients, as was the case in patient 3. Our experience indicates that conservative therapy of esophageal stenosis in dystrophic epidermolysis bullosa should include a combination of the following measures: Phenytoin should be administered to suppress the genetically altered dermal collagenase. Although the observation of our patients does not provide definite proof of effectiveness of phenytoin, analogous to the findings in the skin (7-g), oral phenytoin may also reduce vulnerability and blistering in the esophagus. Plasma levels should be maintained at -10 pg/ml (17). Esophageal strictures, however, representing the result of scarring are not amenable to phenytoin treatment. Furthermore, pureed or semiliquid food is essential in that solid food with hard particles may induce shearing forces that lead to epithelial detachment, and larger particles may not pass an esophageal stenosis. Because tangential shearing forces, rather than vertical pressure, lead to detachment of skin and mucous membranes with eventual scar or stricture formation, any bougienage, for example, with the Eder-Puestow instrument or the Malony bougie, as well as endoscopy should be avoided. This opinion has also been expressed by other authors (19). Instead, balloon dilatation at different esophageal levels is recommended. In recurrent strictures, the dilatation procedure may be repeated, if necessary. Due to the extreme vulnerability of the nasal, pharyngeal, and esophageal mucosa, any deviation of instruments from the lumen may lead to epithelial detachment and possibly perforation. Great care therefore was taken in the placement of dilators and tubes. Guide threads were used instead of guide wires. Finally, small nasogastric or nasoduodenal feed-
December
ESOPHAGUS
1984
I ‘igure
3. Complete complete
I‘igure
4. Serial upper
esophageal remission.
radiographs esophagus
occlusion
in patient
3 with
of esophagus in patient 4 with were performed in the summer
dystrophic
epidermolysis
dystrophic epidermolysis of 1982. A new stricture
IN DYSTROPHIC
EPIDERMOLYSIS
bullosa.
Conservative
management
bullosa. occurred
Tube feeding in 1983.
and dilatation
1379
[see text) led
to
of stricture
in
1380
FEURLEET
AL.
ing tubes of increasing size introduced under general intravenous anesthesia proved successful for months in some patients. The presence of such a tube within the esophageal lumen apparently facilitates a reduction of tight stenosis so that the patient can eventually swallow liquids alongside the tube. Even though we have not been able to conduct a controlled study in this rare disorder, our experience, nevertheless, may be useful in the management of such patients. The aim of our report is to demonstrate the effectiveness of tube feeding and esophageal dilatation in the treatment of dystrophic epidermolysis bullosa and to show that intermittent bougienage and surgical intervention can be avoided. Although the prevalence of this disease is only about 1 in 300,000,it presents serious social problems for the affected individuals. Disability is usually severe and life expectancy may be quite high as is the case in our first patient. These patients require lifelong medical attention which includes continuous management of the esophageal complications.
References 1. Church
RL. Bauer EA. Eisen AZ. Human skin collagenase: assignment of the structural gene to chromosome 11 in both normal and recessive dystrophic epidermolysis bullosa cells using human-mouse somatic cell hybrids. Collagen Rel Res 1983;3:115-24. 2. Eisen AZ. Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. J Invest Dermato1 1969;52:449-53. 3. Lazarus GS. Collagenase and connective tissue metabolism in epidermolysis bullosa. J Invest Dermatol 1972:58:242-a. 4. Bauer EA. Gedde-Dahl T Jr, Eisen AZ. The role of human skin collagenase in epidermolysis bullosa. J Invest Dermatol 1977;68:119-24. 5. Bauer EA. Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures. Proc Nat1 Acad Sci USA 1977:74:4646-50. 6. Eisenberg M, Williams JF. Stevens L. Schofield PJ. Mammalian collagenase and peptidase estimation in normal skin and
GASTROENTEROLOGY
Vol.
87, No.
6
in the skin of patients suffering from epidermolysis bullosa. J Int Res Commun 1974;2:1732. 7. Eisenberg M, Stevens LH, Schofield PJ. Epidermolysis bullosa-new therapeutic approaches. Australas J Dermatol 1978;19:1-8. 8. Bauer EA, Cooper TW, Tucker DR, Esterly NB. Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. N Engl J Med 1980;303:776-81. 9. Bauer EA, Cooper TW. Therapeutic considerations in recessive dystrophic epidermolysis bullosa. Arch Dermatol 1981: 117:529-30. 10. Marsden RA, Sambrook Gowar FJ, MacDonald AF. Main RA. Epidermolysis bullosa of the oesophagus with oesophageal web formation. Thorax 1974;29:287-95. 11. Gedde-Dahl T Jr, Anton-Lamprecht I. Epidermolysis bullosa. In: Emery AEH and Rimoin DL, eds. Principles and practice of medical genetics. Edinburgh: Churchill Livingstone. 1983: 672-87. 12. Absolon KB. Finney LA, Waddill GM Jr, Hatchett C. Esophageal reconstruction-colon transplant-in two brothers with epidermolysis bullosa. Surgery 1969;65:832-6. 13. Schuman BM, Arciniegas E. The management of esophageal complications of epidermolysis bullosa. Dig Dis 1972;17:87580. 14. De Leon R, Mispireta LA, Absolon KB. Five year followup of colonic transplants in patients with epidermolysis bullosa producing esophageal obstruction. Med Ann DC 1974;43: 241-4. 15. Hashimoto I, Schnyder UW. Anton-Lamprecht I, Gedde-Dahl T Jr, Ward S. Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976:256:137-50. 16. Hashimoto I, Anton-Lamprecht I, Hofbauer M. Epidermolysis bullosa dystrophica inversa: Bericht iiber zwei Geschwisterfalle. Hautarzt 1976;27:532-7. 17. Wirth H, Nesch A, Ostapowicz B, Anton-Lamprecht I. Phenytointherapie bei rezessiv-dystrophischen Epidermolysen (Epidermolysis bullosa dystrophica Typ Hallopeau-Siemens und Epidermolysis bullosa dystrophica inversa). Z Hautkr 1983;58:555-74. 18. Album MM, Gaisin A, Lee KWT. Buck BE. Sharrar WG. Gill FM. Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery. Oral Surg 1977;43:859-72. 19. Johnston DE, Koehler RE. Balfe DM. Clinical manifestations of epidermolysis bullosa dystrophica. Dig Dis Sci 1981; 26:1144-g.