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A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Genet Med
November 2024
De Duve Institute, University of Louvain, Brussels, Belgium. Electronic address:
Purpose: Infantile myofibromatosis is characterized by the development of myofibroblastic tumors in young children. In most cases, the disease is caused by somatic gain-of-function variants in platelet-derived growth factor (PDGF) receptor beta (PDGFRB). Here, we reported a novel germline intronic PDGFRB variant, c.
View Article and Find Full Text PDFIsolated Radial Nerve Palsy in a Newborn Due to a Congenital Myofibroma: A Rare Case of Peripheral Nerve Injury.
Children (Basel)
September 2024
Paediatric and Neonatologic Unit, Santo Stefano Hospital, 59100 Prato, Italy.
Isolated musculoskeletal infantile myofibroma is a rare tumor of pediatric age. The majority of cases are seen in children under two years old, but it can occur at any age as a painless enlarging mass that involves bone, skin, or soft tissue, typically accompanied by compression symptoms. Perineural involvement is extremely rare in myofibromas.
View Article and Find Full Text PDFA rare case of cervical myofibroma in an infant: A case report.
Int J Surg Case Rep
June 2024
Pediatric Surgery Section, Aleppo University Hospital, Aleppo, Syria; Dean of Faculty of Medicine, Aleppo University, Aleppo, Syria. Electronic address:
Introduction: A solitary infantile myofibroma tumor arises as a hard, painless cutaneous or subcutaneous nodule and is defined as an uncommon soft tissue neoplasm that is usually seen in childhood.
Case Presentation: A nine-month-old female infant presented with a solid mass that appeared one month ago. The mass gradually increased in size within the right posterior triangle of the neck, without any local or systemic accompanying symptoms.
Unresectable infantile myofibroma discovered in utero.
Pediatr Dermatol
May 2024
Pediatric Dermatology, Henry Ford Hospital, Detroit, Michigan, USA.
The authors present a case of a proliferative nodule located beneath an infant's lower lip that was initially discovered on prenatal ultrasound and fetal magnetic resonance imaging (MRI). Biopsy revealed a smooth muscle actin-positive spindled cell proliferation with hemangiopericytoma-like vessels consistent with infantile myofibromatosis (IM). Since the location prevented surgical management, the clinicians opted to observe the lesion.
View Article and Find Full Text PDFCorneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in .
Ophthalmol Sci
December 2023
Department of Ophthalmology, University of Cologne, Cologne, Germany.
Purpose: To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
Design: Case series with genetic and functional analyses.
Participants: Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.
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