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Musculoskeletal
Diagnosis
Non-Trauma
Congenital and Developmental Abnormalities
General
Neurofibromatosis
Neurofibromatosis
Kara G. Gill, MD; B. J. Manaster, MD, PhD, FACR
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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

                                    1. 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
                                    2. Varan A et al: Neurofibromatosis type 1 and malignancy in childhood. Clin Genet. 89(3):341-5, 2016
                                    3. 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
                                    4. 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
                                    5. 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
                                    6. Ahlawat S et al: Schwannoma in neurofibromatosis type 1: a pitfall for detecting malignancy by metabolic imaging. Skeletal Radiol. 42(9):1317-22, 2013
                                    7. Jaremko JL et al: Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol. 41(8):917-23, 2012
                                    8. Wadhwa V et al: Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal Radiol. 41(7):763-74, 2012
                                    9. Seitz S et al: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int. 21(1):119-27, 2010
                                    10. 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
                                    11. 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
                                    12. Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
                                    13. Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
                                    14. 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
                                    15. 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
                                    16. Cheema JI et al: Radiographic characteristics of lower-extremity bowing in children. Radiographics. 23(4):871-80, 2003
                                    17. Mandell GA et al: Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms. Neurosurgery. 30(4):552-6, 1992
                                    18. Moser RP Jr et al: Multiple skeletal fibroxanthomas: radiologic-pathologic correlation of 72 cases. Skeletal Radiol. 16(5):353-9, 1987
                                    19. 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

                                                                      1. 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
                                                                      2. Varan A et al: Neurofibromatosis type 1 and malignancy in childhood. Clin Genet. 89(3):341-5, 2016
                                                                      3. 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
                                                                      4. 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
                                                                      5. 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
                                                                      6. Ahlawat S et al: Schwannoma in neurofibromatosis type 1: a pitfall for detecting malignancy by metabolic imaging. Skeletal Radiol. 42(9):1317-22, 2013
                                                                      7. Jaremko JL et al: Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol. 41(8):917-23, 2012
                                                                      8. Wadhwa V et al: Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal Radiol. 41(7):763-74, 2012
                                                                      9. Seitz S et al: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int. 21(1):119-27, 2010
                                                                      10. 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
                                                                      11. 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
                                                                      12. Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
                                                                      13. Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
                                                                      14. 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
                                                                      15. 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
                                                                      16. Cheema JI et al: Radiographic characteristics of lower-extremity bowing in children. Radiographics. 23(4):871-80, 2003
                                                                      17. Mandell GA et al: Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms. Neurosurgery. 30(4):552-6, 1992
                                                                      18. Moser RP Jr et al: Multiple skeletal fibroxanthomas: radiologic-pathologic correlation of 72 cases. Skeletal Radiol. 16(5):353-9, 1987
                                                                      19. Mandell GA et al: Fibrous lesions in the lower extremities in neurofibromatosis. AJR Am J Roentgenol. 133(6):1135-8, 1979