Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

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Epidermolysis bullosa (EB) is a rare hereditary disease. Its main feature is vesication and weeping sores (erosions) of the skin and mucous membranes, resulting from a minor injury. Clinical manifestations of the disease may vary from localized vesicles on the hands and feet to a generalized rash of the skin as well as lesions of the mucosa of the inner organs. At present, there are four main groups of EB: simple, intermediate, dystrophic, and Kindler syndrome. Mutations cause changes in the structure of the proteins responsible for the adhesion between layers of the dermis, leading to vesication. Treatment of EB is a challenge because of the lack of opportunities for the direct influence on the disease process, and its main purpose is to correct the existing cutaneous manifestations and prevent the occurrence of new elements. This article describes the main types of EB, methods of current diagnosis, and treatment of the disease as well as a clinical case of a rare combination of two severe disorders: 1) dystrophic EB and 2) arthrogryposis with upper and lower limb involvement.

About the authors

Olga Evgenievna Agranovich

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: olga_agranovich@yahoo.com
MD, PhD, professor, head of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics

Dmitry Stepanovich Buklaev

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: dsbukl@mail.ru
MD, PhD, chief of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics

Tatiana Ivanovna Tikhonenko

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: Tikhonenko_turner@mail.ru
MD, PhD, leading research associate of the department of arthrogryposis. The Turner Scientific and Research Institute for Children’s Orthopedics.


  1. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012;30:70-7. doi: 10.1016/j.clindermatol.2011.03.012.
  2. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa. J Am Acad Dermatol. 2009;61:387-402. doi: 10.1016/j.jaad.2009.03.053.
  3. Fine JD, Eady RA, Bauer EA, 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;58:931-950. doi: 10.1016/j.jaad.2008.02.004.
  4. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75 % of the patients. Br J Dermatol. 2011;164:637-44. doi: 10.1111/j.1365-2133.2010.10146.x.
  5. Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. Initial Posting: October 7, 1998; Last Update: September 1, 2011. doi: 10.1007/springerreference_35076.
  6. Pope E, Lara-Corrales I, Mellerio J, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67:904-17. doi: 10.1016/j.jaad.2012.01.016.
  7. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103-26. doi: 10.1016/j.jaad.2014.01.903.
  8. Murrell D. Epidermolysis Bullosa: Part I - Pathogenesis and Clinical Features. 1 ed. Vol. 28-1. Dermatologic Clinics. Elsevier, 2010. doi: 10.1016/j.det.2009.10.020.
  9. Woodley DT, Chen M. Recessive Dystrophic Epidermolysis Bullosa: Advances in the laboratory leading to new therapies. J of Investigative Dermatology. 2015;135:1705-1707. doi: 10.1038/jid.2015.149.
  10. Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatol Clin. 2010;28:107-114. doi: 10.1016/j.det.2009.10.020.
  11. Soro L, Bartus C, Purcell S. Recessive Dystrophic Epidermolysis Bullosa: A eview of disease: Pathogenesis and update on future therapies. J Clin Aesthet Dermatol. 2015;8(5):41-46. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445895/
  12. DEBRA International. Available from: http://www.debra-international.org/debra.html
  13. Liu N, Guo H, Kong X, Shi H, et al. COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis. Exp Dermatol. 2015;95(4):277-82. PMID: 25877244.
  14. Swartling C, Karlqvist M, Hymnelius K, et al. Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. Br J Dermatol. 2010;163(5):1072-6. doi: 10.1111/j.1365-2133.2010.09927.x.
  15. Wong T, Gammon L, Liu L, et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2008;128:2179-89. doi: 10.1038/jid.2008.78.
  16. Woodley DT, Wang X, Amir M, et al. Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol. 2013;133:1910-3. doi: 10.1038/jid.2013.10.
  17. Hovnanian A. Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation? J Invest Dermatol. 2013;133(7):1719-21. doi: 10.1038/jid.2013.137.
  18. Zidorio APC, Dutra ES, Leão DOD, Costa IMC. Nutritional aspects of children and adolescents with epidermolysis bullosa: literature review. An Bras Dermatol. 2015;90(2):217-23. doi: 10.1038/jid.2013.137.

Copyright (c) 2015 Agranovich O.E., Buklaev D.S., Tikhonenko T.I.

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