Surgical treatment of hand pseudosyndactily in patient with epidermolis bullosa: clinical case and skin care
Abstract Epidermolis bullosa (EB) – a group of rare highly polymorphic inherited disorders characterized by erosions and bullas on the skin and mucosa due to minimal exposure. Hands and feet pseudosyndactily is a severe extra-skin complication of EB which develops due to regular blistering on the hands and feet surface, and common in patients with dystrophic EB. In this manuscript we present a clinical case of effective surgical treatment of pseudosyndactily in patient with an autosomal recessive dystrophic EB, and discuss the features of post-operative and daily skin care in patients with EB.
Keywords:epidermolis bullosa, pseudosyndactily, COL7A1
Clin. Experiment. Surg. Petrovsky J. 2015. № 2. Р. 76–82.
References
1. Fine J.D., Johnson L.B., Suchindran C.M. The National Epidermolysis Bullosa Registry. J Invest Dermatol. 1994; Vol. 102: 54S–6S.
2. Fine J.D. Rare disease registries – lessons learned from the National Epidermolysis Bullosa Registry. J Rare Dis. 1996; Vol. 2: 5–14.
3. Fine J.D., Bauer E.A., McGuire J., Moshell A. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University Press, 1999.
4. Fine J.D., Hintner H. Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Wien; New York: Springer-Verlag, 2009.
5. 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; Vol. 58, N 6: 931–50.
6. Fine J.D., Bruckner-Tuderman L., Eady R.A., Bauer E.A., et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014; Vol. 70, N 6: 1103–26.
7. Epidermolysis bullosa / Ed. J.-D. Fine, H. Hintnera; Trans. from English. ed. Yu.Yu. Kotalevskaya. Moscow: Praktika, 2014. 358 p. (in Russian)
8. Fonkalsrud E.W., Ament M.E. Surgical management of esophageal stricture due to recessive dystrophic epidermolysis bullosa. J Pediatr Surg. 1977; Vol. 12: 221–6.
9. Azizkhan R., 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; Vol. 41: 55–60.
10. Ergun G.A., Lin A.N., Dannenberg A.J., Carter D.M. Gastrointestinal manifestations of epidermolysis bullosa. A study of 101 patients. Medicine (Baltimore). 1992; Vol. 71: 121–7.
11. Anderson S.H., Meenan J., Williams K.N., et al. Efficacy and safety of endoscopic dilatation of esophageal strictures in epider- molysis bullosa. Gastrointest Endosc. 2004; Vol. 59: 28–32.
12. Fine J.-D., Johnson L.B., Weiner M., Suchindran C. Gastrointestinal complications of inherited epidermolysis bullosa: cumula- tive experience of the National EB Registry. J Pediatr Gastroenterol Nutr. 2008; Vol. 46: 147–58.
13. Rodriguez-Baez N., Andersen J.M. Management of esophageal strictures in children. Curr. Treat. Options Gastroenterol. 2003; Vol. 6: 417–25.
14. Castillo R.O., Davies Y.K., Lin Y.-C., et al. Management of esophageal strictures in children with recessive dystrophic epi- dermolysis bullosa. J Pediatr Gastroenterol Nutr. 2002; Vol. 34: 535–41.
15. Heyman M.B., Zwass M., Applebaum M., et al. Chronic recurrent esophageal strictures treated with balloon dilatation in children with autosomal recessive epidermolysis bullosa dystrophica. Am. J. Gastroenterol. 1993; Vol. 88: 953–7.
16. Becker M.H., Swinyard C.A. Epidermolysis bullosa dystrophica in children: radiologic manifestations. Radiology. 1968; Vol. 90: 124–8.
17. Greider J.L.Jr, Flatt A.E. Surgical restoration of thehandin epidermolysis bullosa. Arch Dermatol. 1988; Vol. 124: 765–7.
18. Fine J.-D., Johnson L.B., Weiner M. et al Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National EB Registry, 1986–2002. J Hand Surg (British and European Volume). 2005; Vol. 30B: 14–22.
19. Pope E., Lara-Corrales I., Mellerio J., Martinez A., et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012; Vol. 67, N 5: 904–17.
20. El Hachem M., Zambruno G., Bourdon-Lanoy E., Ciasulli A., et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014; Vol. 9: 76.
21. Mellerio J.E., Weiner M., Denyer J.E., et al. Medical management of epidermolysis bullosa: Proceedings of the 2nd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. Int J Der- matol. 2007; Vol. 46: 795–800.