Abstract
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of infancy, characterized by the development of single or multiple nodules in the skin, soft tissues, bone, and/or viscera. Multicentric forms are less frequent and can affect different tissues simultaneously and their prognosis depends on their extension and visceral involvement. Rarely, these forms are limited to the skeleton, in which case the absence of extraosseous lesions makes it difficult to suspect this entity. We present the case of an infant with multiple radiolucent lesions involving the skull, ribs, spine, and long bones, discovered in a radiological study performed after a minor trauma. A broad differential diagnosis was considered based on the osteolytic and polyostotic nature of the lesions on imaging studies. This report details and illustrates the typical radiological findings in bony involvement of IM, which suggest this disorder over other diagnostic options.
Similar content being viewed by others
References
Sargar KM, Sheybani EF, Shenoy A, Aranake-Chrisinger J, Khanna G. Pediatric fibroblastic and myofibroblastic tumors: a pictorial review. Radiographics. 2016;36(4):1195–214.
Mashiah J, Hadj-Rabia S, Dompmartin A, et al. Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol. 2014;71(2):264–70.
Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol. 1990;10:509–26.
Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer. 1981;48(8):1807–18.
Levine E, Fréneaux P, Schleiermacher G, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012;59(1):115–20.
McGuire M, Hendry P, Hong N. A rare case of infantile myofibromatosis presenting to the emergency department as undiagnosed long bone fractures. Pediatric Emerg Care. 2017;33(11):e134–6.
McCammon J, Stefanovici C, Martin RK, Larouche P. Multiple bone lesions in an 8-month-old child presenting with pathologic fracture. JBJS Case Connect. 2016;6(2):e42.
Zhou DB, Zhao JZ, Zhang D, Huang XY. Multicentric infantile myofibromatosis: a rare disorder of the calvarium. Acta Neurochir. 2009;151(6):641–5.
Buonuomo PS, Ruggiero A, Zampino G, et al. A newborn with multiple fractures as first presentation of infantile myofibromatosis. J Perinatol. 2006;26(10):653–5.
Koujok K, Ruiz RE, Hernandez RJ. Myofibromatosis: imaging characteristics. Pediatr Radiol. 2005;35(4):374–80.
Fletcher CD, Unni KK, Mertens F, eds. Fibroblastic/myofibroblastic tumours. In: World Health Organization classification of tumours: pathology and genetics of tumours of soft tissue and bone. Lyon, France: IARC Press, 2002; 47–107.
Stout AP. Juvenile fibromatoses. Cancer. 1954;7(5):953–78.
Wiswell TE, Davis J, Cunningham BE, Solenberger R, Thomas PJ. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg. 1988;23:315–8.
Hettmer S, Dachy G, Seitz G, et al. Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group. Fam Cancer. 2021;20(4):327–36.
Martignetti JA, Tian L, Li D, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013;92(6):1001–7.
Wu D, Wang S, Oliveira DV, et al. The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression. Dis Model Mech. 2021;14(2).
Lee JW. Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clin Genet. 2013;84:340–1.
Antonescu CR, Sung YS, Zhang L, Agaram NP, Fletcher CD. Recurrent SRF-RELA fusions define a novel subset of cellular myofibroma/myopericytoma: a potential diagnostic pitfall with sarcomas with myogenic differentiation. Am J Surg Pathol. 2017;41(5):677–84.
Parikh A, Driscoll CAH, Crowley H, et al. Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis. Radiol Case Rep. 2020;15(11):2440–4.
Merlin M, Le Rouzic M, Vignaud J, Scheid P. A rare case of neonatal-onset infantile myofibromatosis with metastatic recurrence in adulthood. Arch Clin Cases. 2018;05(02):32–6.
Naffaa L, Khalifeh I, Salman R, Itani M, Saab R, Al-Kutoubi A. Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. Clin Imaging. 2019;54:40–7.
Zaveri J, La Q, Yarmish G, Neuman J. More than just Langerhans cell histiocytosis: a radiologic review of histiocytic disorders. Radiographics. 2014;34(7):2008–24.
Mehta K, Haller JO, Legasto AC. Imaging neuroblastoma in children. Crit Rev Comput Tomogr. 2003;44(1):47–61.
Mota EB, Penna CRR, Marchiori E. Metastatic dissemination of a neuroblastoma. J Pediatr. 2017;189:232–232.
Jaramillo D, Dormans JP, Delgado J, Laor T, St Geme JW 3rd. Hematogenous osteomyelitis in infants and children: imaging of a changing disease. Radiology. 2017;283(3):629–43.
Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015;42(12):2434–5.
D’Angelo L, Massimi L, Narducci A, Di Rocco C. Ollier disease. Childs Nerv Syst. 2009;25(6):647–53.
Herget GW, Strohm P, Rottenburger C, et al. Insights into enchondroma, enchondromatosis and the risk of secondary chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma. 2014;61(4):365–78.
Zwenneke Flach H, Ginai AZ, Wolter Oosterhuis J. Best cases from the AFIP. Maffucci syndrome: radiologic and pathologic findings. Armed Forces Institutes of Pathology. Radiographics 200;21(5):1311-6.
Bousson V, Rey-Jouvin C, Laredo JD, et al. Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines. Eur J Radiol. 2014;83(10):1828–42.
Najm A, Soltner-Neel E, Le Goff B, Guillot P, Maugars Y, Berthelot JM. Cystic angiomatosis, a heterogeneous condition: four new cases and a literature review. Medicine (Baltimore). 2016;95(43):e5213.
Schwartz AM, Ramos RM. Neurofibromatosis and multiple nonossifying fibromas. AJR Am J Roentgenol. 1980;135:617–9.
Cherix S, Bildé Y, Becce F, Letovanec I, Rüdiger HA. Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome. BMC Musculoskelet Disord. 2014;15:218.
Zhao G, Zhu M, Qin C, Liu X, Zhao X. Infantile myofibromatosis: 32 patients and review of literature. J Pediatr Hematol Oncol. 2020;42(8):495–8.
Mota F, Machado S, Moreno F, Barbosa T, Selores M. Infantile myofibromatosis- a clinical and pathological diagnostic challenge. Dermatol Online J 2017;23(4):13030/qt4493x33g.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare no competing interests.
Informed consent
Informed consent was obtained from the parents of the subject described in this report.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Luque-Cabal, M., Obregón-Martínez, E., Díez-Blanco, M. et al. Multicentric infantile myofibromatosis with extensive involvement limited to bone. Skeletal Radiol 51, 1503–1510 (2022). https://doi.org/10.1007/s00256-021-03968-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-021-03968-5