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Pediatric Radiology Apr 2005Infantile myofibromatosis is the most common fibrous tumor of infancy. It can involve the skin, muscle, bone, and viscera. This uncommon entity is subdivided into...
BACKGROUND
Infantile myofibromatosis is the most common fibrous tumor of infancy. It can involve the skin, muscle, bone, and viscera. This uncommon entity is subdivided into solitary and multicentric forms, with or without visceral involvement.
OBJECTIVE
To describe the imaging characteristics of extracranial myofibromatosis.
MATERIALS AND METHODS
Six infants, aged 1 day-1 week, were evaluated by imaging. All six patients had evaluation of one of the masses by US; four patients had CT evaluation of at least one of the masses; and five patients had evaluation by MRI.
RESULTS
The US appearance of the myofibromas included a mass with a purely anechoic center with a thick wall, a mass with a partially anechoic center, and a mass without anechoic components. On enhanced CT, the masses had lower or similar attenuation compared to adjacent muscle, with some masses exhibiting peripheral enhancement. The MR appearance consisted of low signal on T1-weighted imaging. On T2-weighted imaging, two had low signal of the center and the other three had high signal. All masses showed peripheral enhancement after gadolinium administration.
CONCLUSIONS
Myofibromas have variable appearance on US, with a mass with an anechoic center being the most common feature. On CT, the mass can exhibit peripheral enhancement, calcifications, and erosion of adjacent bone. The MR appearance consisted of low signal on T1-weighted imaging and high or low signal of the center on T2-weighted imaging. All masses showed peripheral enhancement after gadolinium administration.
Topics: Back; Contrast Media; Diagnostic Imaging; Female; Gadolinium; Humans; Image Enhancement; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Neoplasms; Myofibromatosis; Neck Muscles; Psoas Muscles; Radiographic Image Enhancement; Shoulder; Soft Tissue Neoplasms; Thigh; Thoracic Wall; Tomography, X-Ray Computed; Ultrasonography, Doppler, Color
PubMed: 15558270
DOI: 10.1007/s00247-004-1357-7 -
Skeletal Radiology Oct 1997Infantile myofibromatosis is a mesenchymal tumor most commonly seen in infancy. The tumors have a variable appearance on CT/MR and often simulate a more aggressive...
Infantile myofibromatosis is a mesenchymal tumor most commonly seen in infancy. The tumors have a variable appearance on CT/MR and often simulate a more aggressive neoplasm. This report describes CT/MR findings in cases of infantile myofibromatosis with pathologic correlation. Discussion into the success of imaging in suggesting the correct diagnosis is also addressed.
Topics: Buttocks; Diagnosis, Differential; Female; Hemangiopericytoma; Hip; Humans; Immunohistochemistry; Infant, Newborn; Magnetic Resonance Imaging; Mesenchymoma; Myofibromatosis; Soft Tissue Neoplasms; Tomography, X-Ray Computed; Ultrasonography
PubMed: 9361358
DOI: 10.1007/s002560050295 -
Yonsei Medical Journal Dec 1989We report a case of infantile myofibromatosis in a male infant with involvement of the lungs and subcutaneous tissue. We studied our case by light microscopy,...
We report a case of infantile myofibromatosis in a male infant with involvement of the lungs and subcutaneous tissue. We studied our case by light microscopy, immunohistochemistry and electron microscopy. The results reveal that this entity is of a myofibroblastic nature. We reviewed 165 cases including our case. We believe this is the first report in Korea of infantile myofibromatosis with pulmonary involvement.
Topics: Humans; Infant, Newborn; Leiomyoma; Lung Neoplasms; Male; Microscopy, Electron; Prognosis; Skin Neoplasms
PubMed: 2626841
DOI: 10.3349/ymj.1989.30.4.376 -
Skeletal Radiology Nov 1995An unusual case of infantile myofibromatosis with foci of calcifications was presented, with atypical age of onset and location. The radiological features of this tumor...
An unusual case of infantile myofibromatosis with foci of calcifications was presented, with atypical age of onset and location. The radiological features of this tumor are not always evocative, and histological examination is necessary for diagnosis.
Topics: Actins; Arm; Calcinosis; Child; Desmin; Female; Humans; Muscle, Skeletal; Myofibromatosis; Soft Tissue Neoplasms; Vimentin
PubMed: 8614868
DOI: 10.1007/BF00204868 -
The Medical Journal of Malaysia Dec 2001Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with...
Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytomatous pattern. A male infant with multiple lesions involving the subcutaneous tissue and bone from birth is described and followed-up for two years. Treatment of IMF is dependent on the location of the tumour/s with surgery or chemotherapy reserved for rapidly progressive or symptomatic disease. However, due to the low rate of recurrence and the possibility of spontaneous tumoral regression, therapeutic abstention, as practised in our patient, is justified.
Topics: Humans; Infant; Infant, Newborn; Male; Myofibromatosis
PubMed: 12014771
DOI: No ID Found -
Cancer Oct 1981The clinical and pathologic features of 61 cases of congenital and infantile myofibromatosis are presented. The tumor affected almost exclusively infants and young...
The clinical and pathologic features of 61 cases of congenital and infantile myofibromatosis are presented. The tumor affected almost exclusively infants and young children; 88% of cases occurred before the age of two years, and 60% were noted at birth or shortly thereafter. Solitary (45 cases) and multicentric (16 cases) forms of the tumor could be distinguished; the solitary form was more common in males (69%) and affected chiefly the soft tissues of the head-neck region and the trunk. The multicentric form, on the other hand, predominated in females (63%) and was found not only in soft tissues but also in bones and viscera. Fourteen of the 16 cases with multicentric lesions were present at birth, and four of them had evidence of visceral involvement. Among the 16 cases were two sets of siblings, both brother and sister. Grossly, nearly all of the tumors were well demarcated; they measured from 0.5 to 7 cm in greatest diameter. Microscopically, they formed well-circumscribed nodules consisting of short bundles of plump, spindle-shaped cells displaying staining characteristics intermediate between fibroblasts and smooth muscle cells. Necrosis or a hemangiopericytoma-like pattern was often found in the center of the tumor nodules. Intravascular growth was encountered in several instances, but this feature did not seem to affect the clinical behavior. Of the 43 patients with follow-up data (mean-follow up 5.1 years), 36 were alive and well. Of the solitary lesions, three recurred. Of the multicentric lesions, five of the 15 patients showed evidence of spontaneous regression of both soft tissue and bone lesions. Four died, three of extensive involvement of multiple viscera, especially the lung, and one of "crib-death."
Topics: Age Factors; Bone Neoplasms; Child; Child, Preschool; Female; Fibroma; Follow-Up Studies; Head and Neck Neoplasms; Humans; Infant; Infant, Newborn; Male; Neoplasm Recurrence, Local; Racial Groups; Sex Factors; Skin Neoplasms
PubMed: 7284977
DOI: 10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g -
BMC Medical Genomics Aug 2023Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases... (Review)
Review
BACKGROUND
Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.
CASE PRESENTATION
A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM.
CONCLUSIONS
Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.
Topics: Pregnancy; Female; Humans; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; Germ-Line Mutation; Prenatal Diagnosis
PubMed: 37568122
DOI: 10.1186/s12920-023-01612-w -
Child's Nervous System : ChNS :... Jul 1993An unusual case of infantile myofibromatosis of the solitary type occurring in an intracranial location in a 48-day-old female infant is presented. To our knowledge,... (Review)
Review
An unusual case of infantile myofibromatosis of the solitary type occurring in an intracranial location in a 48-day-old female infant is presented. To our knowledge, there are no other descriptions in the literature of infantile myofibromatosis with exclusively intracranial involvement. The immunohistochemical and electron microscopic findings confirm the myofibroblastic origin of the proliferation.
Topics: Biomarkers, Tumor; Brain Neoplasms; Female; Humans; Immunoenzyme Techniques; Infant; Microscopy, Electron; Myofibromatosis; Parietal Lobe; Temporal Lobe
PubMed: 8402709
DOI: 10.1007/BF00303579 -
Journal of Clinical Ultrasound : JCU Oct 2019Scant literature exists on prenatally diagnosed infantile myofibromatosis (IM). We report a case of multicentric IM, which was first recognized as a soft-tissue... (Review)
Review
Scant literature exists on prenatally diagnosed infantile myofibromatosis (IM). We report a case of multicentric IM, which was first recognized as a soft-tissue paraspinal mass on prenatal sonography and subsequently characterized by MRI with pathological confirmation.
Topics: Adult; Diagnosis, Differential; Female; Humans; Infant, Newborn; Male; Myofibromatosis; Pregnancy; Ultrasonography, Prenatal
PubMed: 31070795
DOI: 10.1002/jcu.22731 -
Advances in Dermatology 2006
Review
Topics: Humans; Infant; Myofibromatosis; Skin Neoplasms
PubMed: 17249306
DOI: 10.1016/j.yadr.2006.09.003