Skip to main content
Erschienen in: Skeletal Radiology 8/2018

14.02.2018 | Review Article

Fibrodysplasia ossificans progressiva: a current review of imaging findings

verfasst von: Adam H. Bauer, Jeff Bonham, Luis Gutierrez, Edward C. Hsiao, Daria Motamedi

Erschienen in: Skeletal Radiology | Ausgabe 8/2018

Einloggen, um Zugang zu erhalten

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.
Literatur
1.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
2.
Zurück zum Zitat Reinig JW, Hill SC, Fang M, et al. Fibrodysplasia ossificans progressiva: CT appearance. Radiology. 1986;159(1):153–7.CrossRefPubMed Reinig JW, Hill SC, Fang M, et al. Fibrodysplasia ossificans progressiva: CT appearance. Radiology. 1986;159(1):153–7.CrossRefPubMed
4.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
6.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
7.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
8.
Zurück zum Zitat Cremin B, Connor MJ, Beighton P. The radiological spectrum of fibrodysplasia ossificans progressiva. Clin Radiol. 1982;33:499–508.CrossRefPubMed Cremin B, Connor MJ, Beighton P. The radiological spectrum of fibrodysplasia ossificans progressiva. Clin Radiol. 1982;33:499–508.CrossRefPubMed
9.
Zurück zum Zitat Mahboubi S, Glaser DL, Shore EM, et al. Fibrodysplasia ossificans progressiva. Pediatr Radiol. 2001;(5):307–14. Mahboubi S, Glaser DL, Shore EM, et al. Fibrodysplasia ossificans progressiva. Pediatr Radiol. 2001;(5):307–14.
11.
Zurück zum Zitat 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) 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)
12.
13.
Zurück zum Zitat Shiva Kumar R, Keerthiraj B, Kesavadas C. Teaching NeuroImages: MRI in fibrodysplasia ossificans progressiva. Neurology. 2010;74(6):e20.CrossRefPubMed Shiva Kumar R, Keerthiraj B, Kesavadas C. Teaching NeuroImages: MRI in fibrodysplasia ossificans progressiva. Neurology. 2010;74(6):e20.CrossRefPubMed
14.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
15.
Zurück zum Zitat Janoff HB, Zasloff MA, Kaplan FS. Submandibular swelling in patients with fibrodysplasia ossificans progressiva. Otolaryngol Head Neck Surg. 1996;114(4):599–604.CrossRefPubMed Janoff HB, Zasloff MA, Kaplan FS. Submandibular swelling in patients with fibrodysplasia ossificans progressiva. Otolaryngol Head Neck Surg. 1996;114(4):599–604.CrossRefPubMed
16.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat 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. 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.
18.
Metadaten
Titel
Fibrodysplasia ossificans progressiva: a current review of imaging findings
verfasst von
Adam H. Bauer
Jeff Bonham
Luis Gutierrez
Edward C. Hsiao
Daria Motamedi
Publikationsdatum
14.02.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
Skeletal Radiology / Ausgabe 8/2018
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-018-2889-5

Weitere Artikel der Ausgabe 8/2018

Skeletal Radiology 8/2018 Zur Ausgabe

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.