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Pediatric Blood & Cancer Jul 2022Infantile myofibroma is a rare, benign tumour of infancy typically managed surgically. In a minority of cases, more aggressive disease is seen and chemotherapy with...
Infantile myofibroma is a rare, benign tumour of infancy typically managed surgically. In a minority of cases, more aggressive disease is seen and chemotherapy with vinblastine and methotrexate may be used, although evidence for this is limited. Chemotherapy dosing in infants is challenging, and vinblastine disposition in infants is unknown. We describe the use of vinblastine therapeutic drug monitoring in four cases of infantile myofibroma. Marked inter- and intrapatient variability was observed, highlighting the poorly understood pharmacokinetics of vinblastine in children, the challenges inherent in treating neonates, and the role of adaptive dosing in optimising drug exposure in challenging situations.
Topics: Child; Drug Monitoring; Humans; Infant; Infant, Newborn; Myofibroma; Myofibromatosis; Vinblastine
PubMed: 35441483
DOI: 10.1002/pbc.29722 -
Pediatric Dermatology May 2022Infantile myofibroma (IM) commonly presents as a benign cutaneous fibrous tumor in infancy. Although the majority of solitary IM regress without any morbidity, some... (Review)
Review
Infantile myofibroma (IM) commonly presents as a benign cutaneous fibrous tumor in infancy. Although the majority of solitary IM regress without any morbidity, some cases have underlying bone or visceral involvement that can lead to both morbidity and mortality. In this report with review of the literature, we present two cases of solitary cutaneous IM with internal involvement and discuss screening cases of solitary IM with full body imaging.
Topics: Bone and Bones; Humans; Myofibroma; Myofibromatosis; Skin Neoplasms; Soft Tissue Neoplasms
PubMed: 35297087
DOI: 10.1111/pde.14975 -
Clinical Case Reports Feb 2022Describe a novel use for a kinase inhibitor, imatinib, in young children with a known activated somatic mutation in PDGFR-beta. Two patients with infantile...
Describe a novel use for a kinase inhibitor, imatinib, in young children with a known activated somatic mutation in PDGFR-beta. Two patients with infantile myofibromatosis treated with imatinib. Case description of evaluation, diagnosis and treatment decisions for infantile myfibromatosis of the head and neck. Description of medical therapy for infantile myofibromatosis in these patients. For function threatening myofibromas of a known genotype, in infants, targeted medical therapy is a treatment option.
PubMed: 35154723
DOI: 10.1002/ccr3.5382 -
Dermatology Online Journal Nov 2021Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these...
Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these are the most prevalent fibrous tumors observed in infancy. A premature male infant presented at birth with multiple subcutaneous firm skin-colored nodules measuring about 1-2cm each. Full body MRI and excisional biopsy of the right chest nodule confirmed the diagnosis. We review the case of infantile myofibromatosis and discuss its highly heterogeneous presentation and clinical course, as well as histopathology, genetic testing, and approaches to management.
Topics: Head and Neck Neoplasms; Humans; Infant, Newborn; Infant, Premature; Male; Myofibromatosis; Photography; Scalp
PubMed: 35130404
DOI: 10.5070/D3271156092 -
Children (Basel, Switzerland) Jan 2022Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as...
Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as one or more benign nodules of the skin, bones, soft tissues, or, rarely, visceral organs. According to the location and number of lesions, there are three different forms: solitary, multicentric without visceral involvement, and multicentric with visceral involvement (generalised), with the latter having the least favourable prognosis. We present a unique case of severe congenital generalised IM in a new-born male who required intubation and mechanical ventilation immediately after the birth due to respiratory distress. A chest radiograph showed numerous tumours involving the entire lung, resembling a metastatic lung disease. Additionally, the neonate had multiple, bluish, papular skin nodules and a biopsy of a skin nodule ultimately led to the diagnosis of IM. Diffuse lung involvement prevented adequate ventilation which resulted in multiorgan failure and death before targeted treatment could have been initiated. The presented case is unique, as such atypical extensive involvement of the lung and leptomeninges in IM has not been reported before. In this brief report, we present the findings of radiographic and ultrasonographic examinations in correlation with autopsy and histopathology.
PubMed: 35053678
DOI: 10.3390/children9010053 -
Medicine Dec 2021The purpose of this study was to investigate the upper trapezius muscle thickness (UTMT) in congenital muscular torticollis (CMT) patients and determine the correlation... (Observational Study)
Observational Study
The purpose of this study was to investigate the upper trapezius muscle thickness (UTMT) in congenital muscular torticollis (CMT) patients and determine the correlation among sternocleidomastoid muscle thickness (SCMT), accessory nerve (AN) cross-sectional area (CSA), and UTMT in CMT.This retrospective study consisted of 2 participant groups: Group 1 (SCM mass CMT, n = 20) and Group 2 (Postural CMT, n = 22). For both groups, B-mode ultrasound was performed by a physiatrist to measure the SCMT and UTMT and calculate the CSA of the AN. The correlation among SCMT, CSA of the AN, and UTMT in both groups was evaluated.The between-group comparison revealed that Group 1 had significantly greater SCMT, UTMT, and CSA of the AN on the affected side than Group 2 (P < .05). The intragroup comparison between the affected and unaffected sides also revealed that, in Group 1, the SCMT, UTMT, and CSA of the AN were significantly higher on the affected side than on the unaffected side (P < .05), whereas no significant differences were observed in Group 2. In Group 1, a positive correlation (r = 0.55) was observed between the UTMT and CSA of the AN on the affected side, but not observed between the SCMT and CSA of the AN.The findings of the study indicate that sternocleidomastoid muscle size may impact the thickness of the upper trapezius muscle via the accessory nerve in patients with congenital torticollis.
Topics: Adult; Female; Fibroma; Humans; Male; Middle Aged; Myofibromatosis; Neck Muscles; Retrospective Studies; Superficial Back Muscles; Torticollis; Ultrasonography
PubMed: 34967390
DOI: 10.1097/MD.0000000000028466 -
Diagnostics (Basel, Switzerland) Dec 2021Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early...
BACKGROUND
Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesion of the skin, bone, muscle, subcutaneous tissue, located at the head, neck, and trunk, with good prognosis; or, as a multicentric form, with or without visceral involvement (heart, lung, gastrointestinal tract, kidney), with a poor prognosis. The definitive diagnosis of IM is confirmed by pathology. Treatment may be conservative, surgical, or chemotherapeutical.
CASE PRESENTATION
A two months old female patient, prenatally diagnosed at 30 weeks, presenting with a tumor on the antero-internal aspect of the left thigh. She was admitted due to rapid postnatal evolution, and the patient required surgery for tumor resection. Previously, clinically, biological and imaging investigations were performed, but the final diagnosis was histological and by immunostaining. The patient had a favorable postoperative outcome.
CONCLUSIONS
Despite its low frequency, IM should be considered in the differential diagnosis of soft tissue masses at an early age. The clinical form (solitary or multicentric), location, and visceral involvement will dictate the treatment and prognosis.
PubMed: 34943624
DOI: 10.3390/diagnostics11122389 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Dec 2021To investigate the clinicopathological features and immunophenotype of adult myofibroma with emphasis on its differential diagnosis. The clinical, pathologic data and...
To investigate the clinicopathological features and immunophenotype of adult myofibroma with emphasis on its differential diagnosis. The clinical, pathologic data and immunohistochemical profiles were analyzed in 15 cases of adult myofibroma diagnosed between 2014 and 2020 in Department of Pathology, Fudan University Shanghai Cancer Center. The literature was reviewed. There were seven males and eight females, with age at presentation ranging from 22 to 74 years (mean 54 years; median 57 years). Tumor occurred principally in the extremities (=9), less frequently involved the head and neck region (=3) and trunk (=2); one case was located in the vertebral canal of C6-7. Fourteen cases were solitary; one case was multifocal. Most patients presented with a slowly growing painless subcutaneous nodule, about 1 to 2 cm in size. One patient with multifocal disease and the patient with spinal lesion complained of intermittent pain. The duration of symptoms ranged from 2 months to 10 years. Microscopically, they were well circumscribed. All cases showed biphasic growth pattern, consisting of relatively well-differentiated eosinophilic nodules alternating with dark-staining primitive-appearing areas. The light-staining hypocellular nodules were composed of myofibroblast-like plump spindle cells within an eosinophilic stroma, which assumed pale blue myxochondroid appearance and hyalinization of varying degree. The dark-staining areas were composed of compact short spindled to ovoid cells with hyperchromatic nuclei and low mitotic activity, frequently showing a distinctive hemangiopericytoma-like architecture. By immunohistochemistry, the myoid spindled cells and the primitive cells stained variably for α-SMA, MSA and calponin, but were consistently negative for desmin and β-catenin. Adult myofibroma tends to occur in the middle to old aged patients with a predilection for the dermis or subcutis of the extremities. It is a benign neoplasm which can be cured by excision in most cases. Familiarity with its distinctive clinicopathological features helps in the distinction from other myofibroblastic neoplasms.
Topics: Aged; China; Female; Humans; Immunohistochemistry; Leiomyoma; Male; Middle Aged; Myofibroma; Myofibromatosis
PubMed: 34865420
DOI: 10.3760/cma.j.cn112151-20210824-00595 -
Skeletal Radiology Jul 2022Infantile myofibromatosis (IM) is the most common benign fibrous tumor of infancy, characterized by the development of single or multiple nodules in the skin, soft...
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.
Topics: Diagnosis, Differential; Humans; Infant; Myofibromatosis; Ribs; Soft Tissue Neoplasms
PubMed: 34865192
DOI: 10.1007/s00256-021-03968-5