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Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu

Yıl 2015, Cilt: 13 Sayı: 3, 222 - 226, 01.12.2015
https://doi.org/10.4274/jcp.48403

Öz

Fibrodisplazi ossifikans progressiva FOP , oldukça nadir görülen bir genetik hastalıktır. FOP olgularında az sayıda hastada otozomal dominant genetik geçiş bildirilmekle birlikte genellikle sporadik mutasyonlarla oluşmaktadır. Hastalığın önlenmesinde ve tedavisinde kesin bir yaklaşım yoktur. Erken tanı konulması, hastalığın progresyonunu hızlandıran gereksiz tanı ve tedavi prosedürlerinin engellenmesi açısından çok önemlidir. Burada, ilk semptomları 9 aylıkken yapılan aşı sonrasında sol deltoid bölgede görülen şişlik ve sertlik olarak başlayan, lezyon bölgesinden yapılan eksizyonel biyopsi ve sağ kolundan yapılan kemik biyopsisi sonrası sık oluşan alevlenmeler ile ilerleyici karakterde klinik sergileyen bir olgu sunuldu. Semptomatik tedavi ve profilaktik önlemler ile hastanın yaşam süresi ve kalitesinin arttırılması amaçlandı. Hastamızın takibinde, alevlenme dönemlerinde oral prednizolon, alendronat ve pamidronat tedavileri uygulandı

Kaynakça

  • 1. Connor JM, Skirton H, Lunt PW. A three generation family with fibrodysplasia ossificans progressiva. J Med Genet 1993;30:687- 9.
  • 2. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: Clinical and genetic aspects. Orphanet J Rare Dis 2011;6:80.
  • 3. Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, 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;30:379-90.
  • 4. Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, et al. Fibrodysplasia ossificans progressiva. Best Prac Res Clin Rheumatol 2008;22:191-205.
  • 5. Kamiya N, Kaartinen VM, Mishina Y. Loss-of-function of ACVR1 in osteoblasts increases bone mass and activates canonical Wnt signaling through suppression of Wnt inhibitors SOST and Dkk1. Biochem Biophys Res Commun 2011;414:326-30.
  • 6. Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando N, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am 1993;75:215-9.
  • 7. Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 1982;64:76-83.
  • 8. Katti E, Seringe R, Gordji A, Turpin JC. Fibrodysplasia ossificans progressiva. Apropos of a case. Rev Chir Orthop Reparatrice Appar Mot 1995;81:81-5.
  • 9. Kaplan FS, Zasloff MA, Kitterman JA, Shore EM, Hong CC, Rocke, DM. Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am 2010;92:686-91.
  • 10. Smith R, Athanasou NA, Vipond SE. Fibrodysplasia (myositis) ossifcans progressiva: Clinicopathological features and natural history. QJM 1996;89:445-6.
  • 11. Kaplan FS, Shore EM, Glaser DL, Emerson S. The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 2003;1:1-72.
  • 12. Ahn J, Serrano de la Pena L, Shore EM, Kaplan FS. Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotropic skeletogenesis. J Bone Joint Surg Am 2003;85:667-74.
  • 13. Shore EM, Xu M, Shah PB, Hahn GV, Deardorff MA, Sovinsky L, et al. The human bone morphogenetic protein (BMP-4) gene: Molecular structure and transcriptional regulation. Calcif Tissue Int 1998;63:221-9.
  • 14. Kartal-Kaess M, Shore EM, Xu M, Schwering L, Uhl M, Korinthenberg R, et al. Fibrodysplasia ossificans progressiva (FOP): Watch the great toes! Eur J Pediatr 2010;169:1417- 21.
  • 15. Urtizbera JA, Testart H, Cartault F, Boccon-Gibod L, Le Merrer M, Kaplan FS. Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br 1998;80:768-71.
  • 16. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006;38:525-7.
  • 17. Srivastava T, Alon US. The role of bisphosphonates in diseases of childhood. Eur J Pediatr 2003;162:735-51.
  • 18. Brantus JF, Meunier PJ. Effects of intravenous etidronate and oral corticosteroids in fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998;346:117-20.
  • 19. Blaszczyk M, Majewski S, Brzezinska-Wcislo L, Jablonska S. Fibrodysplasia ossificans progressiva. Eur J Dermatol 2003;13:234-7.
  • 20. Schuetz P, Mueller B, Christ-Crain M, Dick W, Haas H. Aminobisphosphonates in heterotopic ossification: First experience in five consecutive cases. Spinal Cord 2005;43:604-10.
  • 21. Nucci A, Queiroz LD, Santos AD, Camargo EE, Moura-Ribeiro MV. Fibrodysplasia ossificans progressiva: Case report. Arq Neuropsiquiatr 2000;58:342-7

Fibrodysplasia Ossificans Progressiva: Case Report

Yıl 2015, Cilt: 13 Sayı: 3, 222 - 226, 01.12.2015
https://doi.org/10.4274/jcp.48403

Öz

Fibrodysplasia ossificans progressiva FOP is a very rare genetic disorder. Most cases of FOP arise as a result of spontaneous mutation. A few patients with an autosomal dominant genetic transmission are reported. There is no definitive approach to the prevention and treatment of disease. Early diagnosis prevents unnecessary diagnostic and therapeutic procedures which lead to the progression of the disease. Here, we present a case whose first symptoms began at 9 months of age with swelling and stiffness at the vaccinated region and progressed with exacerbations after the excisional biopsy of the lesion and the bone biopsy of the right arm. Symptomatic treatment and prophylactic measures aimed to improve the quality of life. Exacerbations during follow up were treated with oral prednisolone, alendronate and pamidronate

Kaynakça

  • 1. Connor JM, Skirton H, Lunt PW. A three generation family with fibrodysplasia ossificans progressiva. J Med Genet 1993;30:687- 9.
  • 2. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: Clinical and genetic aspects. Orphanet J Rare Dis 2011;6:80.
  • 3. Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, 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;30:379-90.
  • 4. Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, et al. Fibrodysplasia ossificans progressiva. Best Prac Res Clin Rheumatol 2008;22:191-205.
  • 5. Kamiya N, Kaartinen VM, Mishina Y. Loss-of-function of ACVR1 in osteoblasts increases bone mass and activates canonical Wnt signaling through suppression of Wnt inhibitors SOST and Dkk1. Biochem Biophys Res Commun 2011;414:326-30.
  • 6. Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando N, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am 1993;75:215-9.
  • 7. Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 1982;64:76-83.
  • 8. Katti E, Seringe R, Gordji A, Turpin JC. Fibrodysplasia ossificans progressiva. Apropos of a case. Rev Chir Orthop Reparatrice Appar Mot 1995;81:81-5.
  • 9. Kaplan FS, Zasloff MA, Kitterman JA, Shore EM, Hong CC, Rocke, DM. Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am 2010;92:686-91.
  • 10. Smith R, Athanasou NA, Vipond SE. Fibrodysplasia (myositis) ossifcans progressiva: Clinicopathological features and natural history. QJM 1996;89:445-6.
  • 11. Kaplan FS, Shore EM, Glaser DL, Emerson S. The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 2003;1:1-72.
  • 12. Ahn J, Serrano de la Pena L, Shore EM, Kaplan FS. Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotropic skeletogenesis. J Bone Joint Surg Am 2003;85:667-74.
  • 13. Shore EM, Xu M, Shah PB, Hahn GV, Deardorff MA, Sovinsky L, et al. The human bone morphogenetic protein (BMP-4) gene: Molecular structure and transcriptional regulation. Calcif Tissue Int 1998;63:221-9.
  • 14. Kartal-Kaess M, Shore EM, Xu M, Schwering L, Uhl M, Korinthenberg R, et al. Fibrodysplasia ossificans progressiva (FOP): Watch the great toes! Eur J Pediatr 2010;169:1417- 21.
  • 15. Urtizbera JA, Testart H, Cartault F, Boccon-Gibod L, Le Merrer M, Kaplan FS. Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br 1998;80:768-71.
  • 16. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006;38:525-7.
  • 17. Srivastava T, Alon US. The role of bisphosphonates in diseases of childhood. Eur J Pediatr 2003;162:735-51.
  • 18. Brantus JF, Meunier PJ. Effects of intravenous etidronate and oral corticosteroids in fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998;346:117-20.
  • 19. Blaszczyk M, Majewski S, Brzezinska-Wcislo L, Jablonska S. Fibrodysplasia ossificans progressiva. Eur J Dermatol 2003;13:234-7.
  • 20. Schuetz P, Mueller B, Christ-Crain M, Dick W, Haas H. Aminobisphosphonates in heterotopic ossification: First experience in five consecutive cases. Spinal Cord 2005;43:604-10.
  • 21. Nucci A, Queiroz LD, Santos AD, Camargo EE, Moura-Ribeiro MV. Fibrodysplasia ossificans progressiva: Case report. Arq Neuropsiquiatr 2000;58:342-7
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Case Report
Yazarlar

Enver Şimşek Bu kişi benim

Çiğdem Binay

Nur Göbüt Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2015
Yayımlandığı Sayı Yıl 2015 Cilt: 13 Sayı: 3

Kaynak Göster

APA Şimşek, E., Binay, Ç., & Göbüt, N. (2015). Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu. Güncel Pediatri, 13(3), 222-226. https://doi.org/10.4274/jcp.48403
AMA Şimşek E, Binay Ç, Göbüt N. Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu. Güncel Pediatri. Aralık 2015;13(3):222-226. doi:10.4274/jcp.48403
Chicago Şimşek, Enver, Çiğdem Binay, ve Nur Göbüt. “Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu”. Güncel Pediatri 13, sy. 3 (Aralık 2015): 222-26. https://doi.org/10.4274/jcp.48403.
EndNote Şimşek E, Binay Ç, Göbüt N (01 Aralık 2015) Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu. Güncel Pediatri 13 3 222–226.
IEEE E. Şimşek, Ç. Binay, ve N. Göbüt, “Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu”, Güncel Pediatri, c. 13, sy. 3, ss. 222–226, 2015, doi: 10.4274/jcp.48403.
ISNAD Şimşek, Enver vd. “Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu”. Güncel Pediatri 13/3 (Aralık 2015), 222-226. https://doi.org/10.4274/jcp.48403.
JAMA Şimşek E, Binay Ç, Göbüt N. Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu. Güncel Pediatri. 2015;13:222–226.
MLA Şimşek, Enver vd. “Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu”. Güncel Pediatri, c. 13, sy. 3, 2015, ss. 222-6, doi:10.4274/jcp.48403.
Vancouver Şimşek E, Binay Ç, Göbüt N. Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu. Güncel Pediatri. 2015;13(3):222-6.