Search results for "myofibroma"
showing 5 items of 5 documents
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Computed tomography bone density variations in oncological patients undergoing antiresorptive medication
2021
The purpose of this study was to compare jaw and cervical vertebrae bone density in computed tomography (CT) analyses of oncological patients undergoing antiresorptive medication with control patients, aiming to find information that may assist the radiologist and clinician in predicting risks and monitoring osteonecrosis in the jaw. Thirty-one patients treated with zoledronic acid and 37 control were included in the study. Two areas in regions of interest were chosen and standardized, one in the lower portion of the mandible and another in the axial cervical vertebra (C2) of patients undergoing antiresorptive drug treatment (experimental group) and the control group. Density analysis was p…
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report
2017
Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to…
Myofibroma of the oral cavity. A rare spindle cell neoplasm.
2009
Myofibroma is an uncommon spindle cell neoplasm rarely found in oral cavity. Typically, this lesion is seen in neonates and infants with few cases reported in adults patients. In the oral cavity, myofibroma occurs within the submucosal or intramuscular tissue and has a predilection by the tongue, buccal mucosa and lips. Microscopically, a typical biphasic pattern can be observed. Misdiagnosis included benign and malignant spindle cell lesions of nerve tissue or smooth muscle origin, such as neurofibroma, leiomyoma and sarcomas. Thus, immunohistochemical staining is a useful tool to identify the nature of neoplastic cells and to reach an accurate diagnosis. An immunohistochemical panel consi…
Solitary Myofibroma of the Bladder Trigone in a 3-Month-Old Patient: First Case Report
2016
Visceral solitary myofibromas are uncommon in childhood. We report a case of a solitary asymptomatic visceral myofibroma of the bladder trigone occurring in a 3-month-old boy. Once malignancies were ruled out by cystoscopy, radical excision was performed in order to avoid any potential impairment of bladder dynamic. Postoperative course was uneventful and patient was discharged on day 3 after surgery. After 36 months of follow-up, the patient is toilet-trained and remains well; bladder function is normal.