Treatment of Esophageal Stenosis in Children with Inherited Epidermolysis Bullosa by Retrograde Balloon Dilation: A Case Series
https://doi.org/10.31146/2415-7813-endo-68-2-52-58
Abstract
Objective. To evaluate the efficacy and safety of retrograde (gastrostomy-assisted) balloon dilation (BD) for esophageal strictures in children with dystrophic epidermolysis bullosa (DEB). Materials and Methods. Single-center retrospective case series (2016-2025): eight children with DEB and grade II-IV dysphagia underwent retrograde BD via a mature gastrostomy under combined endoscopic and fluoroscopic guidance; preoperative work-up included a water-soluble contrast esophagogram. Balloons 10-15 mm in diameter (length 55 mm) were used; anesthesia was inhalational mask anesthesia with spontaneous ventilation. Outcomes included stricture location/length, luminal diameter, change in Bown dysphagia score, adverse events, recurrences, and remission duration. Results. Strictures were predominantly located in the upper third of the esophagus (6/8); two patients had two strictures (upper/mid-third). Mean luminal diameter at dilatation was 4 ± 1.6 mm; clinical success was achieved in 100% of patients. The Bown score improved from 2.7 ± 0.7 to 0.4 ± 0.5. No major complications occurred (only moderate odynophagia for 3-5 days). Over two years of follow-up, all patients experienced recurrences requiring repeat retrograde dilations; remission duration was 6-18 months. Conclusion. Retrograde BD in children with DEB demonstrates high efficacy and a favorable safety profile while avoiding oropharyngeal trauma. The technique is appropriate in the presence of a gastrostomy; larger prospective studies are needed for head-to-head comparison with antegrade BD.
About the Authors
A. V. Tupylenko
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
M. M. Lokhmatov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
E. Yu. Dyakonova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
N. N. Murashkin
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
V. I. Oldakovsky
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
G. A. Korolev
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
T. N. Budkina
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
E. I. Khvatova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
References
1. Fine J.D., Eady R.A., Bauer E.A. et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004.
2. Kay M., Wyllie R. Endoscopic dilatation of esophageal strictures in recessive dystrophic epidermolysis bullosa: new equipment, new techniques. J Pediatr Gastroenterol Nutr. 2002;34:515-8. doi: 10.1097/00005176-200205000-00008.
3. Fine J.D., Bruckner-Tuderman L., Eady R.A.J. et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103-26. doi: 10.1016/j.jaad.2014.01.903.
4. Freeman E.B., Köglmeier J., Martinez A.E., Mellerio J.E., Haynes L., Sebire N.J., Lindley K.J., Shah N. Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol. 2008 Jun;158(6):1308-14. doi: 10.1111/j.1365-2133.2008.08507.x.
5. Murashkin N.N., Epishev R.V., Orlova O.S., Kuratova A.А., Polenova V.S. Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation. Current Pediatrics. 2024;23(5):316-328. (in Russ.) doi: 10.15690/vsp.v23i5.2808.@@ Мурашкин Н.Н., Епишев Р.В., Орлова О.С., Куратова А.А., Поленова В.С. Эпидемиология врожденного буллезного эпидермолиза среди детского населения Российской Федерации. Вопросы современной педиатрии. 2024;23(5):316-328. doi: 10.15690/vsp.v23i5.2808.
6. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol. 2009 Sep;61(3):387-402; quiz 403-4. doi: 10.1016/j.jaad.2009.03.053.
7. Gollu G., Ergun E., Ates U., Can O.S., Dindar H. Balloon dilatation in esophageal strictures in epidermolysis bullosa and the role of anesthesia. Dis Esophagus. 2017 Feb 1;30(3):1-6. doi: 10.1111/dote.12503.
8. Azizkhan R.G., Stehr W., Cohen A.P. et al. Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation. J Pediatr Surg. 2006 Jan;41(1):55-60; discussion 55-60. doi: 10.1016/j.jpedsurg.2005.10.007.
9. Spiliopoulos S., Sabharwal T., Krokidis M. et al. Fluoroscopically guided dilation of esophageal strictures in patients with dystrophic epidermolysis bullosa: long-term results. AJR Am J Roentgenol. 2012 Jul;199(1):208-12. doi: 10.2214/AJR.11.8159.
10. El Hachem M., Caldaro T., Lara-Corrales I. et al. Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline. Br J Dermatol. 2025 Aug 18;193(3):394-404. doi: 10.1093/bjd/ljaf191.
11. Wright J.T., Fine J.D., Johnson L.B., Steinmetz T.T. Oral involvement of recessive dystrophic epidermolysis bullosa inversa. Am J Med Genet. 1993;47:1184-8. doi: 10.1002/ajmg.1320470811.
12. Patel K., Wells J., Jones R., Browne F., Moss C., Parikh D. Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa. J Pediatr Gastroenterol Nutr. 2014;58:621-3. doi: 10.1097/MPG.0000000000000256.
13. Rodriguez-Baez N., Andersen J.M. Management of Esophageal Strictures in Children. Curr Treat Options Gastroenterol. 2003 Oct;6(5):417-425. doi: 10.1007/s11938-003-0044-3.
14. Feurle G.E., Weidauer H., Baldauf G., Schulte-Braucks T., Anton-Lamprecht I. Management of esophageal stenosis in recessive dystrophic epidermolysis bullosa. Gastroenterology. 1984;87:1376-80. doi: S0016508584003073.
15. Caldwell-Brown D., Stern R.S., Lin A.N., Carter D.M. Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group. N Engl J Med. 1992 Jul 16;327(3):163-7. doi: 10.1056/NEJM199207163270305.
16. Rosseneu S., Afzal N., Yerushalmi B. et al. Topical application of mitomycin-C in oesophageal strictures. J Pediatr Gastroenterol Nutr. 2007;44:336-41. doi: 10.1097/MPG.0b013e31802c6e45.
17. Canty T.G. Sr, LoSasso B.E. One-stage esophagectomy and in situ colon interposition for esophageal replacement in children. J Pediatr Surg. 1997 Feb;32(2):334-6; discussion 337. doi: 10.1016/s0022-3468(97)90205-0.
18. Demirogullari B., Sonmez K., Turkyilmaz Z. et al. Colon interposition for esophageal stenosis in a patient with epidermolysis bullosa. J Pediatr Surg. 2001;36:1861-3. doi: 10.1053/jpsu.2001.28872.
19. De Angelis P., Caldaro T., Torroni F. et al. Esophageal stenosis in epidermolysis bullosum: A challenge for the endoscopist. J Pediatr Surg. 2011;46:842-7. doi: 10.1016/j.jpedsurg.2011.02.017.
20. Sami S.S., Haboubi H.N., Ang Y. et al. UK guidelines on oesophageal dilatation in clinical practice. Gut. 2018 Jun;67(6):1000-1023. doi: 10.1136/gutjnl-2017-315414.
21. Mauro M.A., Parker L.A., Hartley W.S., Renner J.B., Mauro P.M. Epidermolysis bullosa: radiographic findings in 16 cases. AJR Am J Roentgenol. 1987 Nov;149(5):925-7. doi: 10.2214/ajr.149.5.925.
22. Tambucci R., Angelino G., De Angelis P. et al. Anastomotic Strictures after Esophageal Atresia Repair: Incidence, Investigations, and Management, Including Treatment of Refractory and Recurrent Strictures. Front Pediatr. 2017 May 29;5:120. doi: 10.3389/fped.2017.00120.
23. Azizkhan R.G., Stehr W., Cohen A.P. et al. Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilatation. J Pediatr Surg. 2006 Jan;41(1):55-60; discussion 55-60. doi: 10.1016/j.jpedsurg.2005.10.007.
24. Hubbard L.D., Mayre-Chilton K. Quality of life among adults with epidermolysis bullosa living with a gastrostomy tube since childhood. Qual Health Res. 2015 Mar;25(3):310-9. doi: 10.1177/1049732314549029.
25. Mughal A.Z., Subramanian T., Jones R., James D., Ogboli M., Soccorso G. Evaluating the use of laparoscopic-assisted gastrostomy tube feeding in children with epidermolysis bullosa: A single-center retrospective study. J Pediatr Surg. 2022 Sep;57(9):39-44. doi: 10.1016/j.jpedsurg.2021.10.057.
26. Kleinman E.P., Reimer-Taschenbrecker A., Haller C.N., Paller A.S., Levy M.L., Eichenfield L.F. Gastrostomy tube feeding in epidermolysis bullosa: A multi-center assessment of caregiver satisfaction. Pediatr Dermatol. 2023 Mar;40(2):270-275. doi: 10.1111/pde.15207.
27. Pope E., Mansour M., Berseneva M. et al. Outcomes and Predictors for Re-stenosis of Esophageal Stricture in Epidermolysis Bullosa: A Multicenter Cohort Study. J Pediatr Gastroenterol Nutr. 2020 Sep;71(3):310-314. doi: 10.1097/MPG.0000000000002820.
28. Khademian M., Saneian H., Zare N., Famouri F., Nasri P., Moghadasi M., Kelishadi R. Treatment methods for oesophageal strictures in paediatric patients with epidermolysis bullosa: a systematic review. BMJ Paediatr Open. 2024 Oct 1;8(1): e002689. doi: 10.1136/bmjpo-2024-002689.
29. El Hachem M., Caldaro T., Lara-Corrales I. et al. Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline. Br J Dermatol. 2025 Aug 18;193(3):394-404. doi: 10.1093/bjd/ljaf191.
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For citations:
Tupylenko A.V., Lokhmatov M.M., Dyakonova E.Yu., Murashkin N.N., Oldakovsky V.I., Korolev G.A., Budkina T.N., Khvatova E.I. Treatment of Esophageal Stenosis in Children with Inherited Epidermolysis Bullosa by Retrograde Balloon Dilation: A Case Series. Filin’s Clinical endoscopy. 2026;68(2):52-58. (In Russ.) https://doi.org/10.31146/2415-7813-endo-68-2-52-58
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