An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review

An extreme entity in differential diagnosis of musculoskeletal involvement-fibrodysplasia ossificans progressiva: a case based review

Fibrodysplasia ossificans progressiva is one of the most devastating disorderof mankind characterized by progressive heterotopic ossification. Apart fromhallux valgus, other symptoms start to develop in the first decade of life.The initial symptoms are tumefactive lesions on the back that gives animpression of benign or malignant tumoral lesion. It may cause restrictedmotion of the neck and shoulders and magnetic resonance imaging of thelesions may be reported as myositis or myofasciitis and these children maybe referred to rheumatologists. Currently there is no definitive treatment ofthe disease but the most important issue in these patients is “primum nonnocere”, because any invasive procedure could potentially trigger a flare andheterotopic calcification. Herein, we present a young case of fibrodysplasiaossificans progressiva to remind the typical signs and symptoms of the diseaseto all clinicians caring for children.

___

  • 1. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: Diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev 2013; 10 (Suppl 2): 437-448.
  • 2. Kaplan FS, Xu M, Glaser DL, et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 2008; 121: e1295-e1300.
  • 3. Rider LG, Lindsey CB, Miller FW. Juvenile Dermatomyositis. In: Petty RE, Laxer RM, Lindsey CB, Wedderburn LR (eds). Textbook of Pediatric Rheumatology (7th ed). Philadelphia: Elsevier, 2016: 351-383.
  • 4. Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005; 116: e654-e661.
  • 5. Kaplan FS, Kobori JA, Orellana C, et al. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. Am J Med Genet A 2015; 167A: 2265-2271.
  • 6. Kaplan FS. The skeleton in the closet. Gene 2013; 528:7-11.
  • 7. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: Clinical and genetic aspects. Orphanet J Rare Dis 2011; 6: 80.
  • 8. Pignolo RJ, Bedford-Gay C, Liljesthröm M, et al. The natural history of flare-ups in fibrodysplasia ossificans progressiva (FOP): A comprehensive global assessment. J Bone Miner Res 2016; 31: 650-656.
  • 9. Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006; 38: 525-527.
  • 10. Kaplan FS, Xu M, Seemann P, 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: 379-390.
  • 11. Kaplan FS, Shore EM, Pignolo RJ; The International Clinical Consortium on Fibrodysplasia Ossificans Progressiva. The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 2011; 4: 1-100.
  • 12. Kaplan FS, Pignolo RJ, Shore EM. From mysteries to medicines: Drug development for fibrodysplasia ossificans progressive. Expert Opin Orphan Drugs 2013; 1: 637-649.
  • 13. 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: 686-691.
  • 14. Önal M, Bajin MD, Yılmaz T. Fibrodysplasia ossificans progressiva: A case report. Turk J Pediatr 2014; 56: 561-564.
  • 15. Topçu HO, Özgü B, Turgut O. Normogonadotropik primary amenorrhea; fibrodysplasia ossificans progressiva. Endokrinolojide Diyalog 2013; 10: 124-126.
  • 16. Toprak U, Erhuner Z, Selvi AN, Paşaoğlu E, Karademir MA. Progresif ossifikan fibrodisplazi: Olgu sunumu. Ankara Üniversitesi Tıp Fakültesi Mecmuası 2007; 60: 173-175.
  • 17. Özbudak Demir S, Karahan G, Aydın G, Köseoğlu F. Fibrodisplazi (miyozitis) ossifikans progresiva: İki olgu sunumu. Romatizma 2001; 16: 164-168.
  • 18. Baysal T, Elmali N, Kutlu R, Baysal O. The stone man: Myositis (fibrodysplasia) ossificans progressiva. Eur Radiol 1998; 8: 479-481.
  • 19. Kocyigit, H, Hizli, N, Memis A, Sabah D, Memis A. A severely disabling disorder: Fibrodysplasia ossificans progressiva. Clin Rheumatol 2001; 20: 273-275.
  • 20. Eresen Yazıcıoğlu C, Karatosun V, Kızıldağ S, Ozsoylu D, Kavukçu S. ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. Gene 2013; 515: 444-446.
  • 21. Aslan G, Celik F, Görgü M. Unusual ankylosis of the jaw due to fibrodysplasia ossificans progressiva. Ann Plast Surg 1999; 43: 576-578.
  • 22. Gülaldi NC, Elahi N, Sasani J, Erbengi G. Tc-99m MDP scanning in a patient with extensive fibrodysplasia ossificans progressiva. Clin Nucl Med 1995; 20: 188- 190.
  • 23. Orhan K, Uyanik LO, Erkmen E, Kilinc Y. Unusually severe limitation of the jaw attributable to fibrodysplasia ossificans progressiva: A case report with cone-beam computed tomography findings. Oral Surg Oral Med Oral Pathol Oral Radiol 2012; 113: 404-409.
  • 24. Atik T, Işık E, Onay H, Tekin İM, Günay H, Özkınay F. Fibrodisplazi ossifikans progresiva: Klinik ve moleküler bulgularıyla klasik bir olgu. Turkiye Klinikleri J Pediatr 2015; 24: 164-168.
  • 25. Şimşek E, Binay Ç, Göbüt N. Fibrodisplazi ossifikans progressiva: Olgu sunumu. Güncel Pediatri 2015; 13: 222-226.
  • 26. Tüysüz B, Kırcı F, Erginel A, et al. Corpus callosum agenezisi olan bir fibrodysplasia ossificans olgusu. Turk Pediatri Ars 1993; 28.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
Sayıdaki Diğer Makaleler

Effects of Lactobacillus rhamnosus GG as a probiotic on neonatal hyperbilirubinemia

Mehmet MUTLU, Erdal IRMAK, Yakup ASLAN, Şebnem KADER

Plasma lipoxin A4 levels in childhood chronic spontaneous urticaria

Fatih DİLEK, Deniz ÖZÇEKER, Eray Metin GÜLER, Emin ÖZKAYA, Mebrure YAZICI, Zeynep TAMAY, Abdurrahim KOÇYİĞİT, Nermin GÜLER

Outcome of out-of-hospital cardiopulmonary arrest in children: A multicenter cohort study

FUNDA KURT, Tanıl KENDİRLİ, Ramiz Coşkun GÜNDÜZ, Selman KESİCİ, Halise AKÇA, Şanlıay ŞAHİN, Gökhan KALKAN, Murat DERBENT, Nilden TUYGUN, Çağlar ÖDEK, Ayşe GÜLTEKİN KESER, Sinan OĞUZ, Emine POLAT, Okşan DERİNÖZ, DENİZ TEKİN, Özlem TEKŞAM, Benan BAYRAKÇI, Emine SUSKAN

Exhaled breath condensate magnesium levels of infants with bronchiolitis

Hasan Demirkan, Erkan Yılmaz, Mustafa Soylak, Mehmet Köse, Didem Öztürk, Melih Hangül, Fatma Gül Demirkan

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

Burçak BİLGİN, Serkan Kabaçam, Ekim TAŞKIRAN, Pelin Özlem ŞİMŞEK-KİPER, YASEMİN ALANAY, Koray BODUROĞLU, Gülen Eda UTİNE

A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment

Betül SÖZERİ, Bengü GERÇEKER TÜRK, Başak Yıldız ATIKAN, Sevgi MİR, Afig BERDELİ

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies

Dilek DOĞRUEL, Fatma Derya BULUT, MUSTAFA YILMAZ, Neslihan ÖNENLİ MUNGAN, Derya Ufuk ALTINTAŞ

Perioperative factors associated with hyperglycemia after pediatric cardiac surgery and impact of hyperglycemia on morbidity and mortality

Çağlar ÖDEK, Tanıl KENDİRLİ, Nihan YILDIRIM YILDIZ, Ayhan YAMAN, Tayfun UÇAR, Zeynep EYİLETEN, CAN ATEŞ, Adnan UYSALEL, Ercan TUTAR, Semra ATALAY

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

Bülent HACIHAMDİOĞLU, Gamze ÖZGÜRHAN, Bahar ÇARAN, Evrim MEYDAN AKSANLI, Ece KESKİN

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center

M. Sinan Beksaç, Diclehan Orhan, Beril Talim, Şule Yiğit, Murat Yurdakök, Zuhal Akçören, Gökçen Örgül, Gülen Eda Utine, Osman Koray Boduroğlu, Şafak Güçer, Gözdem Kaykı