The Fibrodysplasia Ossificans Progressiva and Bone Scintigraphy
A Case Report
DOI:
https://doi.org/10.59667/sjoranm.v7i1.14Keywords:
Bone scintigraphy, Fibrodysplasia ossificans progressiva, Heterotopic ossificationAbstract
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare autosomal dominant condition characterized by malformations of the big toes and progressive extra-skeletal ossifications in distinct anatomical patterns. In FOP, heterotopic ossification (HO) occurs episodically, resulting from spontaneous flare-ups or trauma, leading to cumulative disability. Bone scintigraphy with 99mTc-MDP combined with SPECT-CT is instrumental in early detection, diagnosis, staging, and disease monitoring by highlighting HO sites.
References
- Kaplan FS, LeMerrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol 2008;22:191-205.
- Shore EM, Feldman GJ, Xu M, Kaplan FS. The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005;3:201-4.
- Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, 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;30:379-90.
- Kitterman JA, Kantanie S, RockeDM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005;116:654-61.
- Kaplan FS, Glaser DL. Thoracic insufficiency syndrome in patients with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005;3:213-6.
- 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;92:686-91.
- Kaplan FS, Al Mukaddam M, Pignolo RJ. A cumulative analogue joint involvement scale for fibrodysplasia ossificans progressiva (FOP). Bone 101: 123-128, 2018a.
- Cohen RB, Hahn GV, Tabas J, Peeper J, Levitz CL, Sando A, Sando N, Zasloff M, Kaplan FS. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. J Bone Joint Surg Am 75: 215-219, 1993
- Pignolo RJ, Bedford-Gay C, Liljesthrom M, Durbin-Johnson BP, Shore EM, Rocke DM, Kaplan FS. The natural history of flare-ups in fibrodysplasia ossificans progressiva: a comprehensive global assessment. J Bone Miner Res 31:650-656, 2016
- Zaghloul KA, Heuer GG, Guttenberg MD, Shore EM, Kaplan FS, Storm PB. Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva. J Neursurg Pediatrics 1: 91-94, 2008
- Pignolo RJ, Durbin-Johnson BP, Rocke DM, Kaplan FS. Joint -specific risk of impaired
function in fibrodysplasia ossificans progressiva (FOP). Bone 109:124-133, 2018
- Rocke DM, Zasloff M, Peeper J, Cohen RB, Kaplan FS. Age and joint-specific risk of initial heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. Clin Orthop 301: 243-248, 1994.
- Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, Shore EM, Harland RM, Kusumi K. Developmental anomalies of the cervical spine in patients with fibrodysplasia
ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome. Spine 30: 1379-1385, 2005
- Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005;116:e65461.
- Chuang TL, Ho KW, Wang YF. A Bizarre bone scan of fibrodysplasia ossificans progressiva. Clin Nucl Med 2018;43:4335.
- Tulchinsky M. Diagnostic features of fibrodysplasia (myositis) ossificans progressiva on bone scan. Clin Nucl Med 2007;32:6169.
- Pawar SU, Sahoo S, Manglunia A, Tilve GH. Fibrodysplasia ossificance progressiva: A familial presentation. Indian J Nucl Med 2015;30:2901.
- Reinig JW, Hill SC, Fang M, Marini J, Zasloff MA. Fibrodysplasia ossificans progressiva: CT appearance. Radiology 1986;159:1537
- Pignolo RJ, Shore EM, Kaplan FS (2013) Fibrodysplasia Ossifi cans Progressiva: Diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev 10: 437-448. Link: http://bit.ly/2T9fd3x
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Sofia CHKIKAR, Dr SEDDOUKI Assia, Pr ISMAILI ALAOUI Nadia
This work is licensed under a Creative Commons Attribution 4.0 International License.
This license requires that reusers give credit to the creator. It allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, even for commercial purposes.
