Fibrodysplasia Ossificans Progressiva

Overview

Journal Clin Case Rep

Date 2023 Nov 9

PMID 37942184

Authors

Chane Smit

Andre Uys

Affiliations

Soon will be listed here.

Abstract

Key Clinical Message: Fibrodysplasia ossificans progressiva is a progressively debilitating condition associated with significant morbidity caused by heterotopic ossification. Recognition of the early signs of hallux valgus and painful soft tissue nodules can assist in the early diagnosis of this condition. Periodic radiographic examination is mandatory to monitor the disease progression.

Abstract: Fibrodysplasia ossificans progressiva is a rare condition with an estimated prevalence of one in two million individuals. The condition is characterized by widespread heterotrophic ossification of skeletal muscles and ligaments. We report the case of an 8-year-old female patient and show the radiological progression of the condition.

Citing Articles

Fibrodysplasia ossificans progressiva complicated with post traumatic and infectious myositis ossificans in masseter: A case report.

Guan Y, Ma D Medicine (Baltimore). 2024; 103(37):e39648.

PMID: 39287296 PMC: 11404880. DOI: 10.1097/MD.0000000000039648.

Fibrodysplasia ossificans progressiva.

Smit C, Uys A Clin Case Rep. 2023; 11(11):e8165.

PMID: 37942184 PMC: 10628188. DOI: 10.1002/ccr3.8165.

References

Haga N, Nakashima Y, Kitoh H, Kamizono J, Katagiri T, Saijo H . Fibrodysplasia ossificans progressiva: Review and research activities in Japan. Pediatr Int. 2019; 62(1):3-13. DOI: 10.1111/ped.14065. View

Sferopoulos N, Kotakidou R, Petropoulos A . Myositis ossificans in children: a review. Eur J Orthop Surg Traumatol. 2017; 27(4):491-502. DOI: 10.1007/s00590-017-1932-x. View

Meng X, Wang H, Hao J . Recent progress in drug development for fibrodysplasia ossificans progressiva. Mol Cell Biochem. 2022; 477(10):2327-2334. PMC: 9499916. DOI: 10.1007/s11010-022-04446-9. View

Pignolo R, Bedford-Gay C, Liljesthrom M, Durbin-Johnson B, Shore E, Rocke D . The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment. J Bone Miner Res. 2016; 31(3):650-6. PMC: 4829946. DOI: 10.1002/jbmr.2728. View

Kaplan F, Al Mukaddam M, Stanley A, Towler O, Shore E . Fibrodysplasia ossificans progressiva (FOP): A disorder of osteochondrogenesis. Bone. 2020; 140:115539. PMC: 7502483. DOI: 10.1016/j.bone.2020.115539. View

Al Kaissi A, Kenis V, Ghachem M, Hofstaetter J, Grill F, Ganger R . The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva. J Clin Med Res. 2016; 8(3):246-53. PMC: 4737038. DOI: 10.14740/jocmr2465w. View

Bauer A, Bonham J, Gutierrez L, Hsiao E, Motamedi D . Fibrodysplasia ossificans progressiva: a current review of imaging findings. Skeletal Radiol. 2018; 47(8):1043-1050. DOI: 10.1007/s00256-018-2889-5. View

Kaplan F, Groppe J, Xu M, Towler O, Grunvald E, Kalunian K . An ACVR1 pathogenic variant in two families with mild fibrodysplasia ossificans progressiva. Am J Med Genet A. 2021; 188(3):806-817. DOI: 10.1002/ajmg.a.62585. View

Khan F, Yu X, Hsiao E . Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva. Biomedicines. 2021; 9(2). PMC: 7915901. DOI: 10.3390/biomedicines9020155. View

10.

Wentworth K, Masharani U, Hsiao E . Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva. Br J Clin Pharmacol. 2018; 85(6):1180-1187. PMC: 6533435. DOI: 10.1111/bcp.13823. View

11.

Smit C, Uys A . Fibrodysplasia ossificans progressiva. Clin Case Rep. 2023; 11(11):e8165. PMC: 10628188. DOI: 10.1002/ccr3.8165. View

12.

Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N . A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A. 2008; 146A(4):459-63. DOI: 10.1002/ajmg.a.32151. View

13.

Hildebrandt S, Kampfrath B, Fischer K, Hildebrand L, Haupt J, Stachelscheid H . ActivinA Induced SMAD1/5 Signaling in an iPSC Derived EC Model of Fibrodysplasia Ossificans Progressiva (FOP) Can Be Rescued by the Drug Candidate Saracatinib. Stem Cell Rev Rep. 2021; 17(3):1039-1052. PMC: 8166717. DOI: 10.1007/s12015-020-10103-9. View

14.

Gencer-Atalay K, Ozturk E, Yagci I, Ata P, Delil K, Ozgen Z . Challenges in the treatment of fibrodysplasia ossificans progressiva. Rheumatol Int. 2018; 39(3):569-576. DOI: 10.1007/s00296-018-4179-x. View

15.

Kaplan F, Shen Q, Lounev V, Seemann P, Groppe J, Katagiri T . Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP). J Bone Miner Metab. 2008; 26(6):521-30. PMC: 3620015. DOI: 10.1007/s00774-008-0879-8. View