Congenital and familial disorder that involves neuroectoderm, mesoderm, and endoderm
8 subtypes proposed but only 2 commonly used
NF1: 85-90% of patients
NF type 2 (NF2): 10-15% of patients (bilateral acoustic neuromas/vestibular schwannomas)
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nuclear Medicine Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Ahlawat S et al: Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol. 49(2):199-219, 2020
Varan A et al: Neurofibromatosis type 1 and malignancy in childhood. Clin Genet. 89(3):341-5, 2016
Al Kaissi A et al: Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I. Case Rep Orthop. 2015:425970, 2015
Meneses-Quintero D et al: Dystrophic thoracic spine dislocation associated with type-1 neurofibromatosis: case report and rationale for treatment. J Craniovertebr Junction Spine. 6(2):79-82, 2015
Ueda K et al: Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: prevalence rates and correlations of thoracic findings. Eur J Radiol. 84(6):1191-5, 2015
Ahlawat S et al: Schwannoma in neurofibromatosis type 1: a pitfall for detecting malignancy by metabolic imaging. Skeletal Radiol. 42(9):1317-22, 2013
Jaremko JL et al: Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol. 41(8):917-23, 2012
Wadhwa V et al: Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal Radiol. 41(7):763-74, 2012
Seitz S et al: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int. 21(1):119-27, 2010
Bertagna F et al: Plurifocal malignant peripheral nerve sheath tumor demonstrated by 18F-fluorodeoxyglucose positron emission tomography/computed tomography. Jpn J Radiol. 27(8):320-3, 2009
Cai W et al: Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 250(3):665-73, 2009
Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
Ferner RE et al: [18F.] 2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol. 19(2):390-4, 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
Cheema JI et al: Radiographic characteristics of lower-extremity bowing in children. Radiographics. 23(4):871-80, 2003
Mandell GA et al: Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms. Neurosurgery. 30(4):552-6, 1992
Moser RP Jr et al: Multiple skeletal fibroxanthomas: radiologic-pathologic correlation of 72 cases. Skeletal Radiol. 16(5):353-9, 1987
Mandell GA et al: Fibrous lesions in the lower extremities in neurofibromatosis. AJR Am J Roentgenol. 133(6):1135-8, 1979
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Clinical Issues
TERMINOLOGY
Abbreviations
Neurofibromatosis (NF)
Synonyms
Recklinghausen disease [NF type 1 (NF1)]
Definitions
Congenital and familial disorder that involves neuroectoderm, mesoderm, and endoderm
8 subtypes proposed but only 2 commonly used
NF1: 85-90% of patients
NF type 2 (NF2): 10-15% of patients (bilateral acoustic neuromas/vestibular schwannomas)
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nuclear Medicine Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Ahlawat S et al: Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol. 49(2):199-219, 2020
Varan A et al: Neurofibromatosis type 1 and malignancy in childhood. Clin Genet. 89(3):341-5, 2016
Al Kaissi A et al: Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I. Case Rep Orthop. 2015:425970, 2015
Meneses-Quintero D et al: Dystrophic thoracic spine dislocation associated with type-1 neurofibromatosis: case report and rationale for treatment. J Craniovertebr Junction Spine. 6(2):79-82, 2015
Ueda K et al: Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: prevalence rates and correlations of thoracic findings. Eur J Radiol. 84(6):1191-5, 2015
Ahlawat S et al: Schwannoma in neurofibromatosis type 1: a pitfall for detecting malignancy by metabolic imaging. Skeletal Radiol. 42(9):1317-22, 2013
Jaremko JL et al: Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol. 41(8):917-23, 2012
Wadhwa V et al: Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal Radiol. 41(7):763-74, 2012
Seitz S et al: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int. 21(1):119-27, 2010
Bertagna F et al: Plurifocal malignant peripheral nerve sheath tumor demonstrated by 18F-fluorodeoxyglucose positron emission tomography/computed tomography. Jpn J Radiol. 27(8):320-3, 2009
Cai W et al: Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 250(3):665-73, 2009
Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
Ferner RE et al: [18F.] 2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol. 19(2):390-4, 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
Cheema JI et al: Radiographic characteristics of lower-extremity bowing in children. Radiographics. 23(4):871-80, 2003
Mandell GA et al: Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms. Neurosurgery. 30(4):552-6, 1992
Moser RP Jr et al: Multiple skeletal fibroxanthomas: radiologic-pathologic correlation of 72 cases. Skeletal Radiol. 16(5):353-9, 1987
Mandell GA et al: Fibrous lesions in the lower extremities in neurofibromatosis. AJR Am J Roentgenol. 133(6):1135-8, 1979
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