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| http://dx.doi.org/10.11604/pamj.2014.19.173.5060 | DOI Listing |
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An Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report.
Cureus
December 2024
Radiology Department, King Khaled Eye Specialist Hospital, Riyadh, SAU.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features.
View Article and Find Full Text PDFIncidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Hôpital Intercommunal de Créteil, Créteil, France.
Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype.
View Article and Find Full Text PDFNeurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies.
View Article and Find Full Text PDFImaging findings of type I neurofibromatosis with outcome of malignant peripheral nerve sheath tumor in the right lower extremity.
J Clin Ultrasound
November 2024
Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the NF1 tumor suppressor gene, characterized by café-au-lait spots, neurofibromas, and Lisch nodules. Malignant peripheral nerve sheath tumor (MPNST) is an extremely rare malignancy with neural differentiation potential. The lifetime risk of developing MPNST in NF-1 patients is 8%-13%.
View Article and Find Full Text PDFRetinal Reactive Astrocytic Tumor and Astrocytic hamartomas in patient with Neurofibromatosis type 1: Case Report and Literature review.
Eur J Ophthalmol
November 2024
Department of Medicine, Surgery and Neuroscience, Unit of Ophthalmology, Ocular Oncology, University of Siena, Siena, Italy.
Introduction: Neurofibromatosis type I, also known as Von Recklinghausen disease, is a common phakomatosis affecting 1 in 2500-3000 live births; it may be associated with several common ocular findings, including Lisch nodules, plexiform neurofibromas, optic pathway gliomas, retinal astrocytic hamartomas and choroidal nodules.
Case Description: This report illustrates clinical evidence of simultaneous presence of retinal reactive astrocytic tumor (RRAT) and two retinal astrocytic hamartomas (RAH) in a 15 y/o patient with NF1, referred to our attention because of an asymptomatic fundus mass in his right eye of recent onset.
Conclusion: This case, in addition to considering NF1 as one of the ocular conditions associated with secondary RRAT, underlines the importance of early referral and continuous ophthalmological follow-up in preventing possible complications that could cause significant visual impairment in patients with NF1.
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