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Erschienen in: Skeletal Radiology 7/2022

04.12.2021 | Case Report

Multicentric infantile myofibromatosis with extensive involvement limited to bone

verfasst von: María Luque-Cabal, Estíbaliz Obregón-Martínez, María Díez-Blanco, Marta Álvarez-García, Gabriel Fernández-Pérez

Erschienen in: Skeletal Radiology | Ausgabe 7/2022

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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.
Literatur
1.
Zurück zum Zitat 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.CrossRef 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.CrossRef
2.
Zurück zum Zitat 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.CrossRef 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.CrossRef
3.
Zurück zum Zitat Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol. 1990;10:509–26.CrossRef Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol. 1990;10:509–26.CrossRef
4.
Zurück zum Zitat Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer. 1981;48(8):1807–18.CrossRef Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer. 1981;48(8):1807–18.CrossRef
5.
Zurück zum Zitat Levine E, Fréneaux P, Schleiermacher G, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012;59(1):115–20.CrossRef Levine E, Fréneaux P, Schleiermacher G, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012;59(1):115–20.CrossRef
6.
Zurück zum Zitat 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.CrossRef 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.CrossRef
7.
Zurück zum Zitat 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.CrossRef 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.CrossRef
8.
Zurück zum Zitat Zhou DB, Zhao JZ, Zhang D, Huang XY. Multicentric infantile myofibromatosis: a rare disorder of the calvarium. Acta Neurochir. 2009;151(6):641–5.CrossRef Zhou DB, Zhao JZ, Zhang D, Huang XY. Multicentric infantile myofibromatosis: a rare disorder of the calvarium. Acta Neurochir. 2009;151(6):641–5.CrossRef
9.
Zurück zum Zitat 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.CrossRef 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.CrossRef
10.
Zurück zum Zitat Koujok K, Ruiz RE, Hernandez RJ. Myofibromatosis: imaging characteristics. Pediatr Radiol. 2005;35(4):374–80.CrossRef Koujok K, Ruiz RE, Hernandez RJ. Myofibromatosis: imaging characteristics. Pediatr Radiol. 2005;35(4):374–80.CrossRef
11.
Zurück zum Zitat 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. 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.
12.
13.
Zurück zum Zitat 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.CrossRef 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.CrossRef
14.
Zurück zum Zitat 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. 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.
15.
Zurück zum Zitat 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.CrossRef 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.CrossRef
16.
Zurück zum Zitat 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). 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).
17.
Zurück zum Zitat Lee JW. Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clin Genet. 2013;84:340–1.CrossRef Lee JW. Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clin Genet. 2013;84:340–1.CrossRef
18.
Zurück zum Zitat 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.CrossRef 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.CrossRef
19.
Zurück zum Zitat 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.CrossRef 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.CrossRef
20.
Zurück zum Zitat 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.CrossRef 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.CrossRef
21.
Zurück zum Zitat 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.CrossRef 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.CrossRef
22.
Zurück zum Zitat 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.CrossRef 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.CrossRef
23.
Zurück zum Zitat Mehta K, Haller JO, Legasto AC. Imaging neuroblastoma in children. Crit Rev Comput Tomogr. 2003;44(1):47–61.CrossRef Mehta K, Haller JO, Legasto AC. Imaging neuroblastoma in children. Crit Rev Comput Tomogr. 2003;44(1):47–61.CrossRef
24.
Zurück zum Zitat Mota EB, Penna CRR, Marchiori E. Metastatic dissemination of a neuroblastoma. J Pediatr. 2017;189:232–232.CrossRef Mota EB, Penna CRR, Marchiori E. Metastatic dissemination of a neuroblastoma. J Pediatr. 2017;189:232–232.CrossRef
25.
Zurück zum Zitat 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.CrossRef 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.CrossRef
26.
Zurück zum Zitat Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015;42(12):2434–5.CrossRef Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015;42(12):2434–5.CrossRef
27.
Zurück zum Zitat D’Angelo L, Massimi L, Narducci A, Di Rocco C. Ollier disease. Childs Nerv Syst. 2009;25(6):647–53.CrossRef D’Angelo L, Massimi L, Narducci A, Di Rocco C. Ollier disease. Childs Nerv Syst. 2009;25(6):647–53.CrossRef
28.
Zurück zum Zitat 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.CrossRef 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.CrossRef
29.
Zurück zum Zitat 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. 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.
30.
Zurück zum Zitat 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.CrossRef 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.CrossRef
31.
Zurück zum Zitat 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.CrossRef 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.CrossRef
32.
Zurück zum Zitat Schwartz AM, Ramos RM. Neurofibromatosis and multiple nonossifying fibromas. AJR Am J Roentgenol. 1980;135:617–9.CrossRef Schwartz AM, Ramos RM. Neurofibromatosis and multiple nonossifying fibromas. AJR Am J Roentgenol. 1980;135:617–9.CrossRef
33.
Zurück zum Zitat 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.CrossRef 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.CrossRef
34.
Zurück zum Zitat 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.CrossRef 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.CrossRef
35.
Zurück zum Zitat 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. 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.
Metadaten
Titel
Multicentric infantile myofibromatosis with extensive involvement limited to bone
verfasst von
María Luque-Cabal
Estíbaliz Obregón-Martínez
María Díez-Blanco
Marta Álvarez-García
Gabriel Fernández-Pérez
Publikationsdatum
04.12.2021
Verlag
Springer Berlin Heidelberg
Erschienen in
Skeletal Radiology / Ausgabe 7/2022
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-021-03968-5

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