Dermatologic findings manifest in childhood, but the disease progresses to multiple organ systems. Here's how to proceed if you diagnose this in your patient.
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Unusual fundus lesion in mosaic neurofibromatosis type 2.
Ophthalmic Genet
March 2025
W. K. Kellogg Eye Center, Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan, USA.
Background: Neurofibromatosis is a neurocutaneous syndrome that predisposes individuals to a variety of tumors. In type 2, these typically do not present until early adulthood. We present a case of an unusual fundus lesion in neurofibromatosis type 2 (NF2) in a young child.
View Article and Find Full Text PDFLongitudinal clinical characteristics of patients with neurofibromatosis type 1.
Can J Ophthalmol
March 2025
Department of Ophthalmology and Optometry, Medical University of Vienna, Vienna, Austria. Electronic address:
Purpose: This study reports on longitudinal clinical characteristics of patients with neurofibromatosis type 1 (NF1) treated at the Department of Ophthalmology of the Medical University of Vienna.
Methods: This retrospective study included children with a genetically proven diagnosis of NF1. Clinical characteristics and outcomes, including best-corrected visual acuity (BCVA), refractive error, ocular motility, specific ophthalmological findings (e.
Purpose Phenotype-based ascertainment of probands in studies of Mendelian disorders may exclude individuals with mild phenotypes or that lack health care access. We explore this premise in All of Us Research Program participants with pathogenic variation causal for three Mendelian conditions: autosomal dominant polycystic kidney disease (ADPKD), Marfan syndrome, and neurofibromatosis type 1 (NF1). Methods We identified All of Us Research Program participants with putatively pathogenic variation in NF1, FBN1, PKD1, and PKD2.
View Article and Find Full Text PDFNeurofibromatosis type 1 (NF1)-related ocular signs: new insights on their prevalence, incidence and genotype-phenotype correlation in NF1 children.
Am J Ophthalmol
March 2025
Department of Ophthalmology and Neuroscience, University of Padova, 35128, Padova, Italy.
Purpose: To assess, in a large pediatric population affected by neurofibromatosis type 1 (NF1): prevalence, incidence, age of onset and genotype correlation of the main NF1-related ocular signs, including: optic pathway glioma (OPG), Lisch nodules (LNs), choroidal abnormalities (CAs) and retinal vascular abnormalities (RVAs).
Methods: NF1 patients ≤16 years old followed at our Institution between 2010 and 2022 were included. Presence of NF1-related ocular signs was assessed at baseline and during follow-up evaluations through slit lamp observation (LNs), near-infrared (NIR) imaging (CAs and RVAs) and neuroimaging revision (OPG).
A rare unifocal gastric gastrointestinal stromal tumor in a young NF1 patient: A case report.
Int J Surg Case Rep
March 2025
Department of Surgery, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Introduction And Importance: Gastrointestinal stromal tumors (GISTs) are the most prevalent mesenchymal neoplasms of the gastrointestinal tract, predominantly associated with mutations in the KIT and PDGFRA genes. Neurofibromatosis type 1 (NF1) increases the risk of developing GISTs, particularly in younger individuals, and often presents with atypical features.
Case Presentation: A 16-year-old female with a known diagnosis of NF1 presented with severe anemia, hematemesis, and melena.
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