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Thorac Cardiovasc Surg 2014; 62(02): 192-195
DOI: 10.1055/s-0032-1322622
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Intrathoracic Fibrodysplasia Ossificans Progressiva

Serdar Özkan
1   Department of Thoracic Surgery, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey
,
Ebru Alp
2   Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey
,
Funda Demirağ
3   Department of Pathology, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey
,
Ülkü Yazıcı
1   Department of Thoracic Surgery, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey
,
Nurettin Karaoğlanoğlu
1   Department of Thoracic Surgery, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey
› Institutsangaben
Weitere Informationen

Publikationsverlauf

20. März 2012

23. April 2012

Publikationsdatum:
29. November 2012 (online)

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Abstract

Fibrodysplasia ossificans progressiva is an extremely rare disease that is usually seen in the form of sporadic cases and seems to be localized outside of the thoracic cavity. Inflammation and trauma are accused in the etiology, and too many diagnostic mistakes are done. The disease, which may present genetic transmission and has not a definitive treatment, was seen as an intrathoracic mass for the first time. Intrathoracic mass was excised, and the cure was achieved in our patient, who was defined to be sporadic as a result of familial screening.

Keywords

fibrodysplasia ossificans progressiva - heterotopic ossification - intrathoracic
 

  • References

  • 1 Shore EM, Feldman GJ, Xu M, Kaplan FS. The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005; 3: 201-204
    CrossrefPubMedSuche in Google Scholar
  • 2 Hamilton SW, Roxburgh C, Renshaw PR. Fibrodysplasia ossificans progressiva: a new spotlight on an old disease-a case report. Acta Orthop 2008; 79 (3) 449-451
    CrossrefPubMedSuche in Google Scholar
  • 3 Cohen RB, Hahn GV, Tabas JA , 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 (2) 215-219
    PubMedSuche in Google Scholar
  • 4 Kaplan FS, Glaser DL, Shore EM , et al. The phenotype of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005; 3: 183-188
    CrossrefPubMedSuche in Google Scholar
  • 5 Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 1982; 64 (1) 76-83
    PubMedSuche in Google Scholar
  • 6 Pignolo RJ, Suda RK, Kaplan FS. The fibrodysplasia ossificans progressiva lesion. Clin Rev Bone Miner Metab 2005; 3: 195-200
    CrossrefPubMedSuche in Google Scholar
  • 7 Deirmengian GK, Hebela NM, O'Connell M, Glaser DL, Shore EM, Kaplan FS. Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am 2008; 90 (2) 366-374
    CrossrefPubMedSuche in Google Scholar
  • 8 Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005; 116 (5) e654-e661
    CrossrefPubMedSuche in Google Scholar
  • 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 2007; 39 (2) 276
    PubMedSuche in Google Scholar
  • 10 Urist MR. Bone: formation by autoinduction. Science 1965; 150 (3698) 893-899
    CrossrefPubMedSuche in Google Scholar
  • 11 Fontaine K, Sémonin O, Legarde JP, Lenoir G, Lucotte G. A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family. Genet Couns 2005; 16 (2) 149-154
    PubMedSuche in Google Scholar