Purpose: To determine whether an epidemiologic association exists between glomus tumors and neurofibromatosis.
Methods: Using a pathology database, we established a study cohort consisting of all patients who had undergone excision of a glomus tumor of the hand between 1995 and 2010. We created a control cohort by randomly selecting 200 patients who had undergone excision of a ganglion cyst over the same period. We reviewed medical records for each cohort to identify patients with a diagnosis of neurofibromatosis. We calculated the odds ratio was calculated and performed Fisher's exact test to determine the significance of the association.
Results: We identified 21 patients with glomus tumors of the hand. Six of these patients carried the diagnosis of neurofibromatosis (29%). In contrast, no patients in the control group carried the diagnosis of neurofibromatosis. The odds ratio for a diagnosis of neurofibromatosis in association with a glomus tumor compared with controls was 168:1.
Conclusions: This study provides evidence of a strong epidemiologic association between glomus tumors and neurofibromatosis. Glomus tumor should be included in the differential diagnosis in neurofibromatosis patients who present with a painful lesion of the hand or finger.
Type Of Study/level Of Evidence: Diagnostic III.
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http://dx.doi.org/10.1016/j.jhsa.2013.05.025 | DOI Listing |
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFAppl Neuropsychol Child
January 2025
Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Korea.
Visuomotor function impairment is commonly observed in individuals with neurofibromatosis type 1 (NF1). In this case report, a 13-year-old child diagnosed with NF1 and impaired visuomotor skills participated in an 8-week tablet computer-based cognitive training for visuomotor function. The Beery-Buktenica Developmental Test of Visual-Motor Integration, 6th Edition (VMI-6) and the Korean Smartphone Addiction Proneness Scale for Youth were administered before and after the intervention to assess effectiveness.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Neuro-Oncology/Neurology, Erasmus MC Cancer Institute, 3015 GD Rotterdam, The Netherlands.
Physicians face clinical dilemmas in the diagnosis of non-optic intraparenchymal lesions on MRI brain scans of patients with neurofibromatosis type 1. As the incidence and evolution of these lesions into adulthood remain unclear, we conducted a retrospective study on this topic. All adult neurofibromatosis type 1 patients who had at least one MRI brain scan in our center were selected for this study.
View Article and Find Full Text PDFNeuroradiol J
January 2025
Department of Neuroradiology, Mayo Clinic, USA.
Despite their similar nomenclature, Neurofibromatosis type 1 (NF1) and "Neurofibromatosis type 2" are discrete and clinically distinguishable entities. The name of "neurofibromatosis type 2" has been changed to NF2-related schwannomatosis, to reflect the fact that neurofibromas do not occur in this syndrome and therefore the name "Neurofibromatosis" is factually incorrect. Furthermore, multiple schwannomas, a hallmark feature of NF2, can also occur in patients with mutations in genes including SMARCB1 and LZTR1, all exhibiting overlapping clinical features.
View Article and Find Full Text PDFBackground: Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience.
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