How to Cite
Abstract
Myositis ossificans is a rare disorder, characterized by heterotopic bone formation in muscles or soft tissues which is often mistaken for neoplasia. The reasons for ossification in these tissues may be different. In most cases there is a previous trauma, but etiology may be inheritable. Heritable myositis ossificans also called Fibrodysplasia Ossificans Progressiva (FOP) is associated with mutations in the ACVR1 gene and congenital abnormalities, of which malformations of the great toes is constant as well as wide femur neck. We report a case of FOP in the 9-year-old girl admitted to the clinic with swelling of the scapula and neck with a supposed diagnosis of mesenchymoma. The identified a rare germline mutation in the ACVR1 gene was the decisive factor in confirming the diagnosis of the initial manifestation of FOP, before features of ossification can be were visible during histological examination. The case is of interest because of the rarity of the pathology and the difficulty of diagnosing the early manifestation of POF before the formation of the morphological picture and the need for a multidisciplinary approach in the management of these patientsReferences
Schiff MJ, Meara DJ. Myositis Ossificans of the Temporalis Muscle: Case Report and Review of the Literature // J Oral MAxillofac Surg. - 2013. - Vol. 71. - P. 1893-8.
Fite-Trepat L., Martos-Fernandez M., Alberola-Ferranti M. et al. Myositis ossificans of the masseter muscle: A rare location. Report of a case and review of literature // J Clin Exp Dent. - 2016. - Vol. 8. - P. 210-213.
Man S.C., Schnell C.N., Fufezan O. et al. Myositis ossificans traumatica of the neck - a pediatric case // Maedica (Buchar). - 2011. - Vol. 6. - P 128-131.
Igrutinovic G., Mladenovic J., Jakovljevic A. et al. Non-traumatic myositis ossificans of the thigh. A case report // Ann Ital Chir. - 2019. - Vol. 8. - pii: S2239253X19030111.
Findlay I., Lakkireddi PR., Gangone R., Marsh G. A case of myositis ossificans in the upper cervical spine of a young child // Spine (Phila Pa 1976). - 2010. - Vol. 35(25). - E1525-8. - DOI: 10.1097/BRS.0b013e3181ec066b
Pignolo R.J., Shore E.M., Kaplan F.S. Fibrodyspla-sia ossificans progressiva: clinical and genetic aspects // Orphanet J Rare Dis. - 2011. - Vol. 6(80). - DOI: 10.1186/1750-1172-6-80
Dzukou T., Barbier C., Spyckerelle C. et al. Fibrodysplasia ossificans progressiva in children. The interest of early diagnosis and treatment // Presse Med. - 2005. - Vol. 34(5). - P. 373-7.
Pignolo R.J., Shore E.M., Kaplan F.S. Fibrodysplasia ossificans progressiva: clinical and genetic aspects // Orphanet J Rare Dis. - 2011. - Vol. 6. - P. 80. - DOI: 10.1186/1750-1172-6-80
Shore E.M., Gannon F.H., Kaplan F.S. Fibrodysplasia ossificans progressiva why do some people have two skeletons? // J. Clin. Rheumatol. - 1997. - Vol. 3. - P. 84-89.
Kaplan F.S., Glaser D.L., Shore E.M. et al. The phenotype of fibrodysplasia ossificans progressiva // Clin Rev Bone Miner Metab. - 2005. - Vol. 3(3- 4). - P. 183-188.
Kitterman J.A., Kantanie S., Rocke D.M., Kaplan F.S. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva // Pediatrics. - 2005. - Vol. 116 (5). -e654-61.
Kaplan FS. Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects// J Rare Dis. - 2011. - Vol. 6(80). -
Rijer E., Miyazono K., Astrm A.K. et al. Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors // Mamm Genome. - 1998. - Vol. 9(3). - P 266-8.
Chakkalakal S.A., Zhang D., Culbert A.L. et al. An ACVR1 R206H knock-in mouse has fibrodysplasia ossificans progressive // J. Bone Miner. Res. - 2012. - Vol. 27. - P 1746-1756.
Song H., Wang Q., Wen J. et al. ACVR1, a therapeutic target of fibrodysplasia ossificans progressiva, is negatively regulated by miR-148a // Int. J. Mol. Sci. - 2012. - Vol. 13. -P. 2063-2077
Valer J.A., Snchez-de-Diego C., Pimenta-Lopes C. et al. ACVR1 Function in Health and Disease // Cells. - 2019. - Vol. 8(11). - pii: E1366. - DOI: 10.3390/cells8111366
Pacifici M., Shore E.M. Common mutations in ALK2/ ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders // Cytokine Growth Factor Rev. - 2016. - Vol. 27. - P. 93-104. - DOI: 10.1016/j.cytogfr.2015.12.007
Kaplan F.S., 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. - Vol. 3. - P. 379-390. - DOI: 10.1002/humu.20868
Carvalho D.R., Navarro M.M., Martins B.J. et al. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients // Clin. Genet. - 2010. - Vol. 77(2). - P. 171-6. - DOI: 10.1111/j.1399-0004.2009.01256.x
H ning I., Gillessen-Kaesbach G. Fibrodysplasia ossificans progressiva: Clinical course, genetic mutations and genotype-phenotype correlation // Mol. Syndromol. - 2014. - Vol. 5. - P 201-211. - DOI: 10.1159/00036577024
Nakahara Y, Suzuki R., Katagiri T. et al. Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1 // Hum. Genome Var. - 2015. - DOI: 10.1038/hgv.2015.55
Furuya H., Ikezoe K., Wang L. et al. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H) // Am. J. Med. Genet. - 2008. - Vol. 14.6A. - P 459-463.
Lucotte G., Houzet A., Hubans C. et al. Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients // Gene Couns. - 2009. - Vol. 20(1). - P. 53-62.
Kaplan F.S., Zasloff M.A., Kitterman, J.A. et al. Early mortality and cardiorespiratory failure in patients with fibro-dysplasia ossificans progressive // J. Bone Joint Surg. Am. - 2010. - Vol. 92. - P. 686-691.
Kaplan F.S., Tabas J.A., Gannon F.H. et al. The histopa-thology of fibrodysplasia ossificans progressiva. An endochondral process // J. Bone Joint Surg. Am. - 1993. - Vol. 75. -P. 220-230.
Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies // Rheumatol. Int. - 2012. - Vol. 32. - P 1379-1382.
Ravitsky V.,Wilfond B.S. Disclosing individual genetic results to research participants // Am J Bioethics. - 2006. - Vol. 6(6). - P. 8-17.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
© АННМО «Вопросы онкологии», Copyright (c) 2020