Anesthesiology pp 421-428 | Cite as

Anesthesia for Epidermolysis Bullosa

  • Eric WittkugelEmail author
  • Ali Kandil


Epidermolysis Bullosa (EB) is a heterogeneous group of mechanobullous disorders of the skin. EB is caused by 1 of 13 genes responsible for mechanical adhesion between the epidermis and the dermis. EB can have far-reaching effects, involving multiple organ systems in addition to the skin. Although more than 20 phenotypes have been identified, there are three major types of EB: epidermolysis bullosa simplex; junctional epidermolysis bullosa; and recessive dystrophic epidermolysis bullosa. While they all have cutaneous features in common, the systemic manifestations vary. Depending on the type and severity of the disease, anesthesia in these patients can be challenging. A comprehensive and multi-disciplinary plan is necessary to ensure safe and effective perioperative anesthetic care. From transferring the patient to the operating room table, to placing patient monitors, to vascular access, to airway management, each step requires meticulous attention to detail. While airway management can present a significant risk in the perioperative setting, with careful preoperative evaluation and a thoughtful approach, it can be performed safely. Understanding the different types, pathophysiology, and anesthetic considerations EB patients enables better long-term outcomes for these patients who require repeated gastrointestinal, dermatologic, and airway interventions throughout their lives.


Epidermolysis bullosa Anesthesia Vascular access Airway management Fiberoptic intubation Cardiomyopathy 


  1. 1.
    Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Fine JD, Johnson LB, Suchindran C, et al. The National Epidermolysis Bullosa Registry. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory findings of the National Epidermolysis Bullosa Registry. Baltimore: The Johns Hopkins University Press; 1999.Google Scholar
  3. 3.
    Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152:1231.CrossRefPubMedGoogle Scholar
  4. 4.
    El Hachem M, Zambruno G, Bourdon-Lanoy E, et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014;9:76.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Fine JD, Johnson LB, Weiner M, Suchindran C. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size. Br J Dermatol. 2005;152:1009.CrossRefPubMedGoogle Scholar
  6. 6.
    Pope E, Lara-Corrales I, Mellerio J, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67:904.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Goldschneider KR, Lucky AW. Pain management in epidermolysis bullosa. Dermatol Clin. 2010;28:273.CrossRefPubMedGoogle Scholar
  8. 8.
    Colomb V, Bourdon-Lannoy E, Lambe C, et al. Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding. Br J Dermatol. 2012;166:354.CrossRefPubMedGoogle Scholar
  9. 9.
    Van Den Heuvel I, Boschin M, Langer M, Frosch M, Gottschalk A, Ellger B, Hahnenkamp K. Anesthetic management in pediatric patients with epidermolysis bullosa: a single center experience. Edizioni Minerva Med. 2013;79(7):727–32.Google Scholar
  10. 10.
    Goldschneider K, Lucky AW, Mellerio JE, Palisson F, del Carmen Viñuela Miranda M, Azizkhan RG. Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4–6, 2008. Pediatr Anaesth. 2010;20:797–804.CrossRefGoogle Scholar
  11. 11.
    Samol NB, Wittkugel E. Epidermolysis bullosa. |In: Goldschneider KR, Davidson A, Wittkugel E, Skinner A, editors. Clinical pediatric anesthesia, a case-based handbook. New York: Oxford Press; 2012. p. 650–60.CrossRefGoogle Scholar
  12. 12.
    Abu Sa’d J, Indelman M, Pfendner E, et al. Molecular epidemiology of hereditary epidermolysis bullosa in a middle eastern population. J Invest Dermatol. 2006;126:777.CrossRefPubMedGoogle Scholar
  13. 13.
    Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004;204:355.CrossRefPubMedGoogle Scholar
  14. 14.
    Sprecher E. Epidermolysis bullosa simplex. Dermatol Clin. 2010;28:23.CrossRefPubMedGoogle Scholar
  15. 15.
    Prodinger C, Diem A, Bauer JW, Laimer M. [Mucosal manifestations of epidermolysis bullosa: clinical presentation and management]. Hautarzt. 2016;67:806.CrossRefGoogle Scholar
  16. 16.
    Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Miosge N, Kluge JG, Studzinski A, et al. In situ-RT-PCR and immunohistochemistry for the localisation of the mRNA of the alpha 3 chain of laminin and laminin-5 during human organogenesis. Anat Embryol (Berl). 2002;205:355.CrossRefGoogle Scholar
  18. 18.
    Hamill KJ, Paller AS, Jones JC. Adhesion and migration, the diverse functions of the laminin alpha3 subunit. Dermatol Clin. 2010;28:79.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Fine JD, Johnson LB, Weiner M, Suchindran C. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008;152:276.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Fine JD. Premature death in EB. In: Fine JD, Hintner H, editors. Life with epidermolysis bullosa (EB): etiology, diagnosis, multidisciplinary care and therapy. New York: Springer; 2008. p. 197.Google Scholar
  21. 21.
    Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181.CrossRefPubMedGoogle Scholar
  22. 22.
    Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatol Clin. 2010;28:107.CrossRefPubMedGoogle Scholar
  23. 23.
    Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol. 2008;17:553.CrossRefPubMedGoogle Scholar
  24. 24.
    Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II Other organs. J Am Acad Dermatol. 2009;61:387.CrossRefPubMedGoogle Scholar
  25. 25.
    Martinez AE, Allgrove J, Brain C. Growth and pubertal delay in patients with epidermolysis bullosa. Dermatol Clin. 2010;28:357.CrossRefPubMedGoogle Scholar
  26. 26.
    Annicchiarico G, Morgese MG, Esposito S, et al. Proinflammatory cytokines and antiskin autoantibodies in patients with inherited epidermolysis bullosa. Medicine (Baltimore). 2015;94:e1528.CrossRefGoogle Scholar
  27. 27.
    Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009;60:203.CrossRefPubMedGoogle Scholar
  28. 28.
    Lara-Corrales I, Mellerio JE, Martinez AE, Green A, Lucky AW, Azizkhan RG, Murrell DF, Agero AL, Kantor PF, Pope E. Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol. 2010;27:238–43.CrossRefPubMedGoogle Scholar
  29. 29.
    Spinale FG. Myocardial matrix remodeling and the matrix metalloproteinases: influence on cardiac form and function. Physiol Rev. 2007;87:1285–342.CrossRefPubMedGoogle Scholar
  30. 30.
    Maron BJ, Towbin JA, Thiene J, et al. Contemporary definitions and classification of cardiomyopathies. An American Heart Association scientific statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care an Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807–16.CrossRefPubMedGoogle Scholar
  31. 31.
    Sidwell RU, Yates R, Atherton D. Dilated cardiomyopathy in dystrophic epidermolysis bullosa. Arch Dis Child. 2000;83:59–63.CrossRefPubMedPubMedCentralGoogle Scholar
  32. 32.
    Taibjee SM, Ramani P, Brown R, et al. Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline. Arch Dis Child. 2005;90:871–2.CrossRefPubMedPubMedCentralGoogle Scholar
  33. 33.
    Lin AN, Lateef F, Kelly R, Rothaus KO, Carter DM. Anesthetic management in epidermolysis bullosa: review of 129 anesthetic episodes in 32 patients. J Am Acad Dermatol. 1994;30:412–6.CrossRefPubMedGoogle Scholar
  34. 34.
    Azizkhan RG, Stehra W, Cohen AP, Wittkugel E, Farrell MK, Lucky AW, Hammelman BD, Johnson ND, Racadio JM. Esophageal strictures in children with recessive dystrophic epidermolysis bullosa: an 11-year experience with fluoroscopically guided balloon dilation. J Pediatr Surg. 2006;41(1):55–60.CrossRefPubMedGoogle Scholar
  35. 35.
    Griffin RP, Mayou BJ. The anaesthetic management of patients with dystrophic epidermolysis bullosa. Anaesthesia. 1993;48:810.CrossRefPubMedGoogle Scholar
  36. 36.
    Mellerio JE, Weiner M, Denyer JE, et al. Medical management of epidermolysis bullosa: proceedings of the IInd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007;46:795–800.CrossRefPubMedGoogle Scholar
  37. 37.
    Samol NB, Wittkugel E. Epidermolysis bullosa. In: Davis PJ, Cladis FP, Motoyama EK, editors. Smith’s anesthesia for infants and children. 8th ed. Philadelphia: Elsevier Mosby; 2016. p. 1257–60.Google Scholar
  38. 38.
    Fröhlich S, O’Sullivan E. Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. Anaesthesia. 2011;66:842–3.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Anesthesia and PediatricsCincinnati Childrens Hospital Medical CenterCincinnatiUSA

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