Fibrodysplasia ossificans progressiva: a current review of imaging findings
- 38 Downloads
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.
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.
KeywordsFibrodysplasia ossificans progressiva Heterotopic ossification FOP Skeletal development Myositis ossificans progressiva Genetic disorder
Compliance with ethical standards
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.
- 5.https://ghr.nlm.nih.gov/primer/basics/gene. 12/16/2017.
- 9.Mahboubi S, Glaser DL, Shore EM, et al. Fibrodysplasia ossificans progressiva. Pediatr Radiol. 2001;(5):307–14.Google Scholar
- 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
- 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