Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement

Holzer-Fruehwald, Laura; Blasér, Susan; Rossi, Andrea; Fruehwald-Pallamar, Julia; Thurnher, Majda M.

doi:10.1007/s00234-012-1111-z

Cited by 20 publications

(24 citation statements)

References 37 publications

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“…Radiological examinations can be helpful in assessing the extent of the myo broma/myo bromatosis and its progression and prognosis. However, the plain radiography, computed tomography and magnetic resonance imaging (MRI) ndings of myo broma are mostly case reports and small series [11,12,[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30], and some imaging ndings in our study have rarely or never been reported. Our study aimed to describe the multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) ndings of the myo broma and to correlate them with pathologic features, in order to improve the diagnostic accuracy of preoperative radiological examinations.…”

mentioning

confidence: 78%

“…Myo bromas could occur at any bone, the cranio-orbito-facial bones were most often involved with a solitary lesion, while, the other bone lesions were frequently observed with the multicentric type (17%-77%) [2,7,[15][16][17][18]. On plain radiography and CT, most skeletal lesions demonstrated well-de ned, expansile, osteolytic, with or without a partial or poorly developed sclerotic rim which more commonly observed when the lesions start to heal [14,18,19].…”

Section: Discussionmentioning

confidence: 99%

“…On plain radiography and CT, most skeletal lesions demonstrated well-de ned, expansile, osteolytic, with or without a partial or poorly developed sclerotic rim which more commonly observed when the lesions start to heal [14,18,19]. Occasionally, periosteal reaction, cortical expansion, necrosis, and calci cations may be observed [15,17]. Most intraosseous lesions of the mandible were unilocular radiolucency [20].…”

Section: Discussionmentioning

confidence: 99%

“…In our series, a mandible lesion simultaneously showed a partial sclerotic rim, periosteal reaction, and resorption of the external cortical bone, with marked enhancement. Vertebral body collapse was considered as another characteristic imaging ndings of myo bromas [15,21].…”

Section: Discussionmentioning

confidence: 99%

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Myofibroma/myofibromatosis: MDCT and MR imaging findings in 24 patients with radiological-pathological correlation

Chen

et al. 2020

Preprint

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Background: The aim of this study was to characterize the radiological features of myofibroma on multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) and correlate the imaging findings with pathologic features. Methods: The radiological findings of 24 patients with 29 myofibromas were retrospectively reviewed. All images were evaluated with emphasis on density, signal intensity, hypointense area, and enhancement, correlating these with pathologic findings. Results: On plain MDCT scan, 4(26.7%) tumors were homogeneous isodensity, 4(26.7%) tumors were heterogeneous hyperdensity, and 7(46.7%) tumors were heterogeneous hypodensity. On contrast-enhanced MDCT scan, all tumors (9/9) showed heterogeneous enhancement with moderate in 3(33.3%) and marked in 6(66.7%) tumors, and their enhancements were higher compared to adjacent skeletal muscle (P=0.0001). On MRI, heterogeneous slight hyperintensity, homogeneous slight hyperintensity, and heterogeneous hypointensity on T1-weighted imaging (T1WI) were observed in 14(82.3%), 1(5.9%) and 2(11.8%) tumors, respectively. On T2-weighted imaging (T2WI) and fat-suppressed (FS) T2WI, all tumors demonstrated heterogeneous hyperintensity. All tumors showed heterogeneous marked enhancement on FS contrast-enhanced T1WI. On T1WI, T2WI, FS T2WI, and FS contrast-enhanced T1WI, irregular strip or/and patchy hypointensities were found in 16(94.1%), 12(100%), 17(100%) and 17(100%) tumors, respectively, and pseudocapsule was seen in 5(29.4%) tumors. The hypointensities and pseudocapsule on MRI were exactly corresponding to pathological interlacing collagen fibers and fibrosis. The age of the recurrent group was lower than that of the non-recurrent group (P=0.001) and the tumors without pseudocapsule were more likely to recur than those with pseudocapsule (P=0.034). Conclusion: Myofibromas are characterized by heterogeneous density or signal intensity, with moderate or marked enhancement. The hypointensities and pseudocapsule on MRI may be helpful in diagnosis, and the absence of pseudocapsule and younger age may be risk factors for tumor recurrence.

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confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Myofibroma/myofibromatosis: MDCT and MR imaging findings in 24 patients with radiological-pathological correlation

Chen

et al. 2020

Preprint

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“…The solitary form of IM usually occurs in the skin, subcutaneous tissues, muscles and the skull, with good prognosis (3,16–19). By contrast, the multicentric form of IM widely invades subcutaneous muscles, bones and viscera (1,19,20). Both solitary and multicentric forms of IM are associated with poor prognosis if they affect viscera, particularly the heart, the lungs and gastrointestinal tracts (9,13,18).…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report

Zhang

Cheng

et al. 2014

Experimental and Therapeutic Medicine

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The present case report describes a case of infantile myofibromatosis (IM) with a pseudo-ulcerated plaque on the right side of the back of a fetus, detected in the 38th week of gestation using prenatal ultrasound. The fetus was examined weekly by ultrasound to measure the size of the mass. At birth, the scarlet mass was slightly elevated compared with the skin around it, with a cavity in the center. It appeared similar to an ulcerated plaque, but the surface of the mass was intact and smooth with a stratum lucidum. Thus, the mass was indicated to be a pseudo-ulcerated plaque. Three months later, the mass had grown larger and so was removed by surgery. The pathology of the mass was confirmed as IM. It is suggested that IM should be considered when a soft tissue tumor is presented by prenatal ultrasound.

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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

Wenger

Bly

et al. 2020

American J of Med Genetics Pt A

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More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct clinical entities, review of previous reports demonstrates substantial phenotypic overlap. We present a case series of 12 patients with activating variants in PDGFRB and review of the literature. We describe five patients with PDGFRB activating variants whose clinical features overlap multiple diagnostic entities. Seven additional patients from a large family had variable expressivity and lateonset disease, including adult onset features and two individuals with sudden death. Three patients were treated with imatinib and had robust and rapid response,

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Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement

Cited by 20 publications

References 37 publications

Myofibroma/myofibromatosis: MDCT and MR imaging findings in 24 patients with radiological-pathological correlation

Myofibroma/myofibromatosis: MDCT and MR imaging findings in 24 patients with radiological-pathological correlation

Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

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