Advertisement

Skeletal Radiology

, Volume 47, Issue 8, pp 1043–1050 | Cite as

Fibrodysplasia ossificans progressiva: a current review of imaging findings

  • Adam H. Bauer
  • Jeff Bonham
  • Luis Gutierrez
  • Edward C. Hsiao
  • Daria Motamedi
Review Article

Abstract

Objective

Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic. Awareness of this constellation of findings is important to early diagnosis and surveillance.

Conclusions

Recognition of the imaging manifestations of fibrodysplasia ossificans progressiva is imperative to early diagnosis in order to appropriately direct patient care and preclude unnecessary biopsies or surgical procedures.

Keywords

Fibrodysplasia ossificans progressiva Heterotopic ossification FOP Skeletal development Myositis ossificans progressiva Genetic disorder 

Notes

Compliance with ethical standards

Disclosure

Edward C. Hsiao receives clinical research funding from Clementia Pharmaceuticals to support clinical trials in FOP. This does not pose a conflict of interest for this project.

Conflict of interest

The authors declare that they have no conflicts of interest.

References

  1. 1.
    Hagiwara H, Aida N, Machida J, et al. Contrast-enhanced MRI of an early preosseous lesion of fibrodysplasia ossificans progressiva in a 21-month-old boy. AJR Am J Roentgenol. 2003;181(4):1145–7.CrossRefPubMedGoogle Scholar
  2. 2.
    Reinig JW, Hill SC, Fang M, et al. Fibrodysplasia ossificans progressiva: CT appearance. Radiology. 1986;159(1):153–7.CrossRefPubMedGoogle Scholar
  3. 3.
    Kaplan FS. Fibrodysplasia ossificans progressive. Best Pract Res Clin Rheumatol. 2008;22(1):191–205.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Rajapakse CS, Lindborg C, Wang H, et al. Analog method for radiographic assessment of heterotopic bone in fibrodysplasia ossificans progressiva. Acad Radiol. 2017;24(3):321–7.CrossRefPubMedGoogle Scholar
  5. 5.
  6. 6.
    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(3):379–90.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Shafritz AB, Shore EM, Gannon FH, et al. Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med. 1996;335(8):555–61.CrossRefPubMedGoogle Scholar
  8. 8.
    Cremin B, Connor MJ, Beighton P. The radiological spectrum of fibrodysplasia ossificans progressiva. Clin Radiol. 1982;33:499–508.CrossRefPubMedGoogle Scholar
  9. 9.
    Mahboubi S, Glaser DL, Shore EM, et al. Fibrodysplasia ossificans progressiva. Pediatr Radiol. 2001;(5):307–14.Google Scholar
  10. 10.
    Deirmengian GK, Hebela NM, O’Connell M, et al. Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am. 2008;90(2):366–74.  https://doi.org/10.2106/JBJS.G.00774.CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Cohen RB, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva: a study of forty-four patients. JBJS. 1993;75(2)Google Scholar
  12. 12.
    Kan L, Kitterman JA, Procissi D, et al. CNS demyelination in fibrodysplasia ossificans progressiva. J Neurol. 2012;259(12):2644–55.CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Shiva Kumar R, Keerthiraj B, Kesavadas C. Teaching NeuroImages: MRI in fibrodysplasia ossificans progressiva. Neurology. 2010;74(6):e20.CrossRefPubMedGoogle Scholar
  14. 14.
    Levy CE, Lash AT, Janoff HB, et al. Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. Am J Audiol. 1999;8(1):29–33.CrossRefPubMedGoogle Scholar
  15. 15.
    Janoff HB, Zasloff MA, Kaplan FS. Submandibular swelling in patients with fibrodysplasia ossificans progressiva. Otolaryngol Head Neck Surg. 1996;114(4):599–604.CrossRefPubMedGoogle Scholar
  16. 16.
    Kaplan FS, Zasloff MA, Kitterman JA, et al. Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am. 2010;92(3):686–91.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Kaplan FS, Shore EM, Pignolo RJ, Hsiao EC, The International Clinical Consortium on FOP. The medical management of fibrodysplasia ossificans progressiva: current treatment considerations. Clin Proce Intl Clin Consort FOP. 2011;4:1–100.Google Scholar
  18. 18.
    Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis. 2011;6:80.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© ISS 2018

Authors and Affiliations

  • Adam H. Bauer
    • 1
  • Jeff Bonham
    • 2
  • Luis Gutierrez
    • 2
  • Edward C. Hsiao
    • 3
  • Daria Motamedi
    • 2
  1. 1.Kaiser Fontana Medical CenterFontanaUSA
  2. 2.Department of Radiology and Biomedical ImagingUniversity of CaliforniaSan FranciscoUSA
  3. 3.Division of Endocrinology, Diabetes, and Metabolism and the Institute for Human Genetics, Department of MedicineUniversity of CaliforniaSan FranciscoUSA

Personalised recommendations