de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: An update: Surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
Vézina G: Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 45 Suppl 3:S433-42, 2015
Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
Moharir M et al: Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. Eur J Nucl Med Mol Imaging. 37(7):1309-17, 2010
Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
Bredella MA et al: Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol. 189(4):928-35, 2007
Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
Pacelli J et al: Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: case report and subject review. Muscle Nerve. 33(5):697-700, 2006
Kim DH et al: A series of 397 peripheral neural sheath tumors: 30-year experience at Louisiana State University Health Sciences Center. J Neurosurg. 102(2):246-55, 2005
Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Neurofibromatosis type 1 (NF1)
Synonyms
von Recklinghausen disease, autosomal dominant neurofibromatosis
de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: An update: Surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
Vézina G: Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 45 Suppl 3:S433-42, 2015
Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
Moharir M et al: Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. Eur J Nucl Med Mol Imaging. 37(7):1309-17, 2010
Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
Bredella MA et al: Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol. 189(4):928-35, 2007
Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
Pacelli J et al: Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: case report and subject review. Muscle Nerve. 33(5):697-700, 2006
Kim DH et al: A series of 397 peripheral neural sheath tumors: 30-year experience at Louisiana State University Health Sciences Center. J Neurosurg. 102(2):246-55, 2005
Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
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