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Neurofibromatosis
Sonia L. Betancourt-Cuellar, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurofibromatosis type 1 (NF1)
              • Synonyms

                • von Recklinghausen disease
                • Peripheral neurofibromatosis
              • Definitions

                • NF1: Hereditary, neurocutaneous disorder with systemic manifestations including lung involvement (10-20% of affected adults)
                  • Most common phakomatoses
                • NF2: Affects central nervous system; no pulmonary manifestations

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Alves Júnior SF et al: Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med. 149:9-15, 2019
                                      2. Casal A et al: Neurofibromatosis type I with lung involvement in a cancer patient. Pulmonology. 24(4):269-71, 2018
                                      3. Jutant EM et al: Pulmonary hypertension associated with neurofibromatosis type 1. Eur Respir Rev. 27(149), 2018
                                      4. 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
                                      5. Jacques C et al: [Imaging features of neurofibromatosis type 1.] J Neuroradiol. 32(3):180-97, 2005
                                      6. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Neurofibromatosis type 1 (NF1)
                                                  • Synonyms

                                                    • von Recklinghausen disease
                                                    • Peripheral neurofibromatosis
                                                  • Definitions

                                                    • NF1: Hereditary, neurocutaneous disorder with systemic manifestations including lung involvement (10-20% of affected adults)
                                                      • Most common phakomatoses
                                                    • NF2: Affects central nervous system; no pulmonary manifestations

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • CT Findings

                                                        • MR Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Alves Júnior SF et al: Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med. 149:9-15, 2019
                                                                          2. Casal A et al: Neurofibromatosis type I with lung involvement in a cancer patient. Pulmonology. 24(4):269-71, 2018
                                                                          3. Jutant EM et al: Pulmonary hypertension associated with neurofibromatosis type 1. Eur Respir Rev. 27(149), 2018
                                                                          4. 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
                                                                          5. Jacques C et al: [Imaging features of neurofibromatosis type 1.] J Neuroradiol. 32(3):180-97, 2005
                                                                          6. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001