link
Bookmarks
Neurofibromatosis Type 1, Head and Neck
Bernadette L. Koch, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
6
1
16

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Neurofibromatosis type 1 (NF1)
          • Synonyms

            • von Recklinghausen disease, autosomal dominant neurofibromatosis
          • Definitions

            • Autosomal dominant neurocutaneous disorder (phakomatosis)
            • Diagnostic NF1 criteria: If ≥ 2 of following present
              • > 6 café au lait spots measuring ≥ 5 mm in prepubertal & ≥ 15 mm in postpubertal patients
              • ≥ 2 neurofibromas or 1 plexiform neurofibroma (PNF)
              • Axillary/inguinal freckling
              • Visual pathway glioma
              • ≥ Lisch nodules (iris hamartomas)
              • Distinctive bony lesion
                • Sphenoid wing dysplasia
                • Thinning of long bones
                  • ± pseudoarthrosis
              • 1st-degree relative with NF1
            • Peripheral nerve sheath tumor (PNST) = schwannoma, neurofibroma, & PNF
            • Neurofibromas: Localized, plexiform, & diffuse variants

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. 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
                                        2. McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
                                        3. Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
                                        4. Vézina G: Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 45 Suppl 3:S433-42, 2015
                                        5. Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
                                        6. 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
                                        7. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                        8. 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
                                        9. Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
                                        10. 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
                                        11. Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
                                        12. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                        13. Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
                                        14. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                        15. 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
                                        16. 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
                                        17. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                        18. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                        19. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                        20. 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
                                        21. Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
                                        22. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Neurofibromatosis type 1 (NF1)
                                                • Synonyms

                                                  • von Recklinghausen disease, autosomal dominant neurofibromatosis
                                                • Definitions

                                                  • Autosomal dominant neurocutaneous disorder (phakomatosis)
                                                  • Diagnostic NF1 criteria: If ≥ 2 of following present
                                                    • > 6 café au lait spots measuring ≥ 5 mm in prepubertal & ≥ 15 mm in postpubertal patients
                                                    • ≥ 2 neurofibromas or 1 plexiform neurofibroma (PNF)
                                                    • Axillary/inguinal freckling
                                                    • Visual pathway glioma
                                                    • ≥ Lisch nodules (iris hamartomas)
                                                    • Distinctive bony lesion
                                                      • Sphenoid wing dysplasia
                                                      • Thinning of long bones
                                                        • ± pseudoarthrosis
                                                    • 1st-degree relative with NF1
                                                  • Peripheral nerve sheath tumor (PNST) = schwannoma, neurofibroma, & PNF
                                                  • Neurofibromas: Localized, plexiform, & diffuse variants

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. 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
                                                                              2. McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
                                                                              3. Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
                                                                              4. Vézina G: Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 45 Suppl 3:S433-42, 2015
                                                                              5. Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
                                                                              6. 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
                                                                              7. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                                                              8. 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
                                                                              9. Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
                                                                              10. 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
                                                                              11. Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
                                                                              12. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                                                              13. Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
                                                                              14. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                                                              15. 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
                                                                              16. 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
                                                                              17. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                                              18. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                                              19. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                                                              20. 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
                                                                              21. Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
                                                                              22. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997