Fibrodysplasia ossificans progressiva in children (review and clinical analysis of 5 case reports)

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Ossificans progressive fibrodysplasia (OPF) presents a rare genetically caused osteopenia manifested by calcification and ossification of muscles, tendons, ligaments, fascia, and subcutaneous tissues due to aggressive fibroblasts proliferation. The disease is usually associated with congenital skeletal abnormalities: clinodactyly of the first toe, ankylosis of the first interphalangeal joints, and flexion contracture of the first finger. Surgical attempts of ossifications excision are unsuccessful and worsen the situation. 5 patients with OPF are presented. A course of the disease, clinical pattern, and surgery outcomes are disclosed. Both orthopedic manifestations such as congenital hand and foot abnormalities being a key to early clinical evaluation and secondary changes are described in detail. Also, postoperative complications are presented. Surgeonsare recommended to be on guard against this disease when planning the operations for heterotopic ossifications as well as for relating hand and foot abnormalities.

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N. Kovalenko-Klychkova

Turner Scientific and Research Institute for Children 's Orthopedics

编辑信件的主要联系方式.
Email: n-kovalenko85@mail.ru
俄罗斯联邦

I. Klychkova

Turner Scientific and Research Institute for Children 's Orthopedics

Email: klyckova@yandex.ru
俄罗斯联邦

V. Kenis

Turner Research Institute for Children's Orthopedics

Email: kenis@mail.ru
俄罗斯联邦

E. Melchenko

Turner Scientific and Research Institute for Children 's Orthopedics

Email: emelchenko@gmail.com
俄罗斯联邦

参考

  1. Адамбаев З. И. Оссифицирующий миозит. Неврология. 2011; (2): 62-67
  2. Бадокин В.В. Клинико-генетические аспекты прогрессирующей оссифицирующей фибродисплазии. Consilium medicum. 2007; 9(2): 12-17
  3. Давыдова В.М., Мальцев С.В., Мустакимова Д.Р., Валиев В.С. Случай прогрессирующего оссифицирующего миозита у девочки 11 лет. Практическая медицина. 2009; 7(39): 130-132
  4. Зацепин С.Т. Костная патология взрослых. М.: Медицина, 2001. 639 с
  5. Злобина Т.И., Сафонова О.Э., Калягин А.Н. Клинико-рентгенологические аспекты прогрессирующей оссифицирующей фибродисплазии. Сибирский медицинский журнал. 2010; (3): 116-119
  6. Корж А. А., Логачев К. Д. Гетеротопические оссификации. Общие вопросы ортопедии и травматологии. М.: Медицина, 1967; (1):496-515
  7. Ложбанидзе Т.Б., Антелава О.А., Никишина И.П. Прогрессирующая оссифицирующая фибродисплазия. РМЖ. 2005; (8):560-564
  8. Рябова Т.В., Геппе Н.А., Михалева Г.В., Сермягина И.Г. Прогрессирующая оссифицирующая фибродисплазия у детей. Вопросы практической педиатрии. 2011; 6(2): 99-106
  9. Blaszczyk M., Majewski S., Brzezinska-Wcislo L., Jablonska S. Fibrodysplasia ossificans progressive. Eur. J. Dermatol. 2003; 13(3):234-237
  10. Carter S.R., Davies A.M., Evans N., Grimer R.J. Value of bone scanning and computed tomography in fibrodysplasia ossificans progressive. Br. J. Radiol. 1989; 62:269-272.
  11. Groppe J.C., Shore E.M., Kaplan F.S. Functional Modeling of the ACVR1 (R206H) mutation in FOP. Clin. Orthop. Relat. Res. 2007;462:87-92.
  12. Hisa I., Kawara A., Katagiri T., Sugimoto T., Kaji H. Effects of serum from a fibrodysplasia ossificans progressiva patient on osteoblastic cells. Open J. Endocr. Metabol. Dis. 2012; 2(1):1-6.
  13. Illingworth R. S. Myositis ossificans progressiva (Munchmeyer's disease): brief review with report of two cases treated with corticosteroids and observed for 16 years. Arch Dis Child. 1971; (46): 264-268.
  14. Kaplan F.S., Glaser D.L., Shore E.M. et al. The phenotype of fibrodysplasia ossificans progressive. Clin. Rev. Bone Miner. Metab. 2005; (3-4):183-188.
  15. Koster B., Pauli R.M., Reardon W. et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum. Mutat. 2009; 303:79-90.
  16. Nakajima M., Haga N., Takikawa K. et al. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J. Hum. Genet. 2007; 52(5):473-475.
  17. Olmsted E.A., Kaplan F.S., Shore E.M. Bone morphogenetic protein-4 regulation in fibrodysplasia ossificans progressiva. Clin. Orthop. Relat. Res. 2003; 408: 331-343.
  18. Scarlett R.F., Rocke D.M., Kantanie S. et al. Influenza-like viral illnesses and flare-ups of fibrodysplasia ossificans progressiva. Clin. Orthop. Relat. Res. 2004; 423:275-279.
  19. Shimono K., Tung W.E., Macolino C., Chi A.H., Didizian J.H., Mundy C. et al. Potent inhibition of heterotopic ossification by nuclear retinoic acid receptor-gamma agonists. Nat. Med. 2011, 17:454-460.
  20. Wheeless C.R. Myositis ossificans (Sterner's tumor). Wheeless' text book of ortthopaedics. Available from: http: //www.nedug.ru/lib/traum/wheeless/93-4.htm

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