Modern methods of the treatment of hereditary epidermolysis bullosa

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Abstract

Today there are no ethiopathogenetic treatment methods for treating hereditary epidermolysis bullosa. All available treatment methods are symptomatic and are mainly aimed at patient care. Since severe forms of hereditary epidermolysis bullosa affect multiple organs, patients need assistance of both dermatologists and skilled experts such as general practitioners (pediatricians), gastroenterologists and dentists or ophthalmologists, surgeons, hematologists, oncologists, etc. when needed. To take efficient therapeutic and preventive measures, clinical recommendations and treatment standards are needed. Promising therapeutic methods (protein replacement, cell and gene techniques) are currently at different development and implementation stages but they can solve problems related to the treatment of hereditary epidermolysis bullosa in the future.

About the authors

A. A. Kubanov

State research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: noemail@neicon.ru
Россия

V. I. Albanova

State research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru
Россия

V. V. Chikin

State research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: noemail@neicon.ru
Россия

R. V. Yepishev

State research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: epishev@cnikvi.ru
Россия

References

  1. Fine J.D. Inherited epidermolysis bullosa. Orphanet J Rare Dis 2010; 28 (5): 12.
  2. Boeira V.L., Souza E.S., Rocha Bde O. et al. Inherited epidermolysis bullosa: clinical and therapeutic aspects. An Bras Dermatol 2013; 88 (2): 185-198.
  3. Elluru R.G., Contreras J.M., Albert D.M. Management of manifestations of epidermolysis bullosa. Curr Opin Otolaryngol Head Neck Surg 2013; 21 (6): 588-593.
  4. Fine J.D. Inherited epidermolysis bullosa: past, present and future. Ann NY Acad Sci 2010; 1194: 213-222.
  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; 58 (6): 931-950.
  6. Fine J.D., Bruckner-Tuderman L., Eady R.A. et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70 (6): 1103-1126.
  7. 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.
  8. Denyer J. Reducing pain during the removal of adhesive and adherent products. Br J Nurs. 2011; 20 (15): S28, S30-5.
  9. Grocott P1, Blackwell R., Weir H., Pillay E. Living in dressings and bandages: findings from workshops with people with Epidermolysis bullosa. Int Wound J. 2013; 10 (3): 274-284.
  10. Denyer J.E. Wound management for children with epidermolysis bullosa. Dermatol Clin 2010; 28 (2): 257-264.
  11. Mellerio J.E. Infection and colonization in epidermolysis bullosa. Dermatol Clin. 2010; 28 (2): 267-269.
  12. Lara-Corrales I., Arbuckle A., Zarinehbaf S., Pope E. Principles of wound care in patients with epidermolysis bullosa. Pediatr Dermatol 2010; 27 (3): 229-337.
  13. Альбанова В.И., Гольченко В.А. Лечение буллезного эпидермолиза. Рос журн кожн и венерич болезней 2013; (4): 21-24.
  14. McGrath J.A., Mellerio J.E. Epidermolysis bullosa. Br J Hosp Med (Lond) 2006; 67 (4): 188-191.
  15. Бобко С.И., Альбанова В.И. Проблемы физического развития больных буллезным эпидермолизом. Рос журн кожн и венерич болезней 2011; (5): 42-43.
  16. Pope E., Lara-Corrales I., Mellerio J. et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol 2012; 67 (5): 904-917.
  17. Snauwaert J.J., Yuen W.Y., Jonkman M.F. et al. Burden of itch in epidermolysis bullosa. Br J Dermatol 2014; 171 (1): 73-78.
  18. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61 (3): 367-384.
  19. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 2009; 61 (3): 387-402.
  20. Haynes L. Nutrition for children with epidermolysis bullosa. Dermatol Clin 2010 Apr; 28 (2): 289-301.
  21. Marini I., Vecchiet F. Sucralfate: a help during oral management in patients with epidermolysis bullosa. J Periodontol 2001; 72 (5): 691-695.
  22. Dag C., Bezgin T., Ozalp N. Dental management of patients with epidermolysis bullosa. Oral Health Dent Manag 2014; 13 (3): 623-627.
  23. Kramer S.M., Serrano M.C., Zillman G. et al. Oral health care for patients with epidermolysis bullosa - best clinical practice guidelines. Int J Paediatr Dent. 2012; 22 (Suppl. 1): 1-35.
  24. Penarrocha-Oltra D., Aloy-Prosper A., Ata-Ali J. et al. Implants placed simultaneously with particulated bone graft in patients diagnosed with recessive dystrophic epidermolysis bullosa. J Oral Maxillofac Surg 2012; 70 (1): e51-57.
  25. Ciccarelli A.O., Rothaus K.O., Carter D.M., Lin A.N. Plastic and reconstructive surgery in epidermolysis bullosa: clinical experience with 110 procedures in 25 patients. Ann Plast Surg 1995 Sep 35 (3): 254-261.
  26. Tian F., Li B., Tian L.J. Treatment of severe hand deformities caused by epidermolysis bullosa. Orthopedics 2011; 34 (11): e 780-783.
  27. Carulli S., Contin R., De Rosa L. et al. The long and winding road that leads to a cure for epidermolysis bullosa. Regen Med 2013; 8 (4): 467-481.
  28. Hsu C.K., Wang S.P., Lee J.Y., McGrath J.A. Treatment of hereditary epidermolysis bullosa: updates and future prospects. Am J Clin Dermatol 2014; 15 (1): 1-6.
  29. Bruckner-Tuderman L., McGrath J.A., Robinson E.C., Uitto J. Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol 2013; 133 (9): 2121-2126.
  30. Woodley D.T., Keene D.R., Atha T. et al. Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat Med 2004; 10 (7): 693-695.
  31. Robbins P.B., Sheu S.M., Goodnough J.B., Khavari P.A. Impact of laminin 5 beta3 gene versus protein replacement on gene expression patterns in junctional epidermolysis bullosa. Hum Gene Ther 2001; 12 (11): 1443-1448.
  32. Igoucheva O., Kelly A., Uitto J., Alexeev V. Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. J Invest Dermatol 2008; 128 (6): 1476-1486.
  33. к № 6, 2014
  34. Mecklenbeck S., Compton S.H., Mejia J.E. et. al. A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line. Hum Gene Ther 2002; 13 (13): 1655-1662.
  35. Woodley D.T., Keene D.R., Atha T. et. al. Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol Ther 2004; 10 (2): 318-326.
  36. Mavilio F., Pellegrini G., Ferrari S. et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 2006; 12 (12): 1397-1402.
  37. Abdul-Wahab A., Qasim W., McGrath J.A. Gene therapies for inherited skin disorders. Semin Cutan Med Surg 2014; 33 (2): 83-90.
  38. De Rosa L., Carulli S., Cocchiarella F. et al. Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. Stem Cell Reports 2013; 2 (1): 1-8.
  39. Siprashvili Z., Nguyen N.T., Bezchinsky M.Y. et al. Long-term type VII collagen restoration to human epidermolysis bullosa skin tissue. Hum Gene Ther 2010; 21 (10): 1299-1310.
  40. Деев Р.В. Современная генная терапия. Сборник тезисов и статей Международной научной школы «Стволовые клетки и регенеративная медицина», 14 сентября 2011 г., Москва, с. 38-60.
  41. Phase I/II Ex Vivo Gene Therapy Clinical Trial for Recessive Dystrophic Epidermolysis Bullosa Using Skin Equivalent Grafts Genetically Corrected with a COL7A1-Encoding SIN Retroviral Vector (GENEGRAFT). Hum Gene Ther Clin Dev 2014; 25 (2): 65-66.
  42. Uitto J., Has C., Bruckner-Tuderman L. Cell-based therapies for epidermolysis bullosa - from bench to bedside. J Dtsch Dermatol Ges 2012; 10 (11): 803-807.
  43. Мельцова А.Ж., Гриценко В.В., Орловский П.И. и др. Применение дермальных фибробластов в комплексном лечении больных с трофическими язвами венозной этиологии. Вестн хир им. И.И. Грекова. 2007; 166 (1): 72-77.
  44. Макаров П.В., Гундорова Р.А., Терских В.В. и др. Изучение эффективности трансплантации культивированных аллогенных фибробластов в коллагеновом геле при лечении ожоговых дефектов роговицы в эксперименте. Вестн офтальмол 2004; 120: 4: 27.
  45. Kolokol'chikova E.G., Budkevich L.I., Bobrovnikov A.E. et al. Morphological changes in burn wounds after transplantation of allogenic fibroblasts. Bull Exp Biol Med. 2001; 131 (1): 89-93.
  46. Nie X., Zhang J.Y., Cai K.J. et al. Cosmetic improvement in various acute skin defects treated with tissue-engineered skin. Artif Organs 2007; 31 (9): 703-710.
  47. Yoon E.S., Han S.K., Kim W.K. Advantages of the presence of living dermal fibroblasts within restylane for soft tissue augmentation. Ann Plast Surg 2003; 51 (6): 587-592.
  48. Yonezawa M., Tanizaki H., Inoguchi N. et al. Clinical study with allogeneic cultured dermal substitutes for chronic leg ulcers. Int J Dermatol 2007; 46 (1): 36-42.
  49. Wong T., Gammon L., Liu L. et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2008; 128 (9): 2179-2189.
  50. Зорин В.Л., Зорина А.И., Черкасов В.Р. Дермальные фибробласты: что нового? Перспективы клинического применения. Косметика & Медицина 2010; (3): С. 28-34.
  51. Зорин В.Л., Зорина А.И., Петракова О.С., Черкасов В.Р. Дермальные фибробласты для лечения дефектов кожи. Гены и клетки 2009; 4: 4: 26-40.
  52. Зорина А.И., Зорин В.Л., Черкасов В.Р., Ижевский П.В. Клеточные технологии в эстетической медицине. Совр пробл дерматовенерол, иммунол и врач косметол 2010; 4: 4: 76-82.
  53. Fivenson D.P., Scherschun L., Cohen L.V. Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. Plast Reconstr Surg 2003; 112 (2): 584-588.
  54. Fivenson D.P., Scherschun L., Choucair M. et al. Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 2003; 48 (6): 886-892.
  55. Tolar J., Ishida-Yamamoto A., Riddle M. et al. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood 2009; 113 (5): 1167-1174.
  56. Wagner J.E., Ishida-Yamamoto A., McGrath J.A. et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 2010; 363 (7): 629-639.
  57. Conget P., Rodriguez F., Kramer S. et al. Replenishment of type ViI collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy 2010; 12 (3): 429-431.
  58. Tolar J., Xia L., Riddle M.J. et al. Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2011; 131 (4): 848-856.
  59. Uitto J., McGrath J.A., Rodeck U. Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol 2010; 130 (7): 1778-1784.

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Copyright (c) 2014 Kubanov A.A., Albanova V.I., Chikin V.V., Yepishev R.V.

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