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Mandible-Maxilla Neurofibromatosis Type 1
Lisa J. Koenig, BChD, DDS, MS
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • 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 (NF) of any type or 1 plexiform NF (PNF)
                • Axillary/inguinal freckling (Crowe sign)
                • Visual pathway glioma
                • ≥ 2 Lisch nodules (optic hamartomas)
                • Distinctive bony lesion
                  • Sphenoid wing dysplasia
                  • Thinning of long bones ± pseudoarthrosis
                • 1st-degree relative with NF1
              • Peripheral nerve sheath tumor (PNST) = schwannoma, NF
              • NF: Localized, plexiform, & diffuse
              • Malignant peripheral nerve sheath tumor (MPNST) more common in patients with NF1; most commonly arising in preexisting PNF

            IMAGING

            • General Features

              • Radiographic Findings

                • 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. Cung W et al: Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies". Eur J Med Genet. 58(11):584-90, 2015
                                            2. Cunha KS et al: Oral manifestations of neurofibromatosis type 1 in children with facial plexiform neurofibroma: report of three cases. J Clin Pediatr Dent. 39(2):168-71, 2015
                                            3. Patel S et al: Malignant peripheral nerve sheath tumour (MPNST) of mandible: solving the perplexity. BMJ Case Rep., 2015
                                            4. Warhekar AM et al: A rare case report of neurofibromatosis I in HIV positive individual. J Clin Diagn Res. 9(4):ZD20-2, 2015
                                            5. Javed F et al: Oral manifestations in patients with neurofibromatosis type-1: a comprehensive literature review. Crit Rev Oncol Hematol. 91(2):123-9, 2014
                                            6. Vuity D et al: [A 40 year old palatal neurofibroma. A case report.] Fogorv Sz. 106(1):3-6, 2013
                                            7. Asgary S et al: Unilateral gingival enlargement in patient with neurofibromatosis type I. N Y State Dent J. 78(6):50-3, 2012
                                            8. Friedrich RE et al: Size of tooth crowns and position of teeth concerning the extension of facial plexiform neurofibroma in patients with neurofibromatosis type 1. Anticancer Res. 32(5):2207-14, 2012
                                            9. Rawal YB et al: Mandibular abnormalities in a patient with neurofibromatosis type 1. J Tenn Dent Assoc. 92(1):29-31; quiz 32-3, 2012
                                            10. Visnapuu V et al: Radiographic findings in the jaws of patients with neurofibromatosis 1. J Oral Maxillofac Surg. 70(6):1351-7, 2012
                                            11. Bardellini E et al: Oral findings in 50 children with neurofibromatosis type 1. A case control study. Eur J Paediatr Dent. 12(4):256-60, 2011
                                            12. Chrcanovic BR et al: Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible. J Craniomaxillofac Surg. 39(7):538-43, 2011
                                            13. Heervä E et al: Short mandible, maxilla and cranial base are common in patients with neurofibromatosis 1. Eur J Oral Sci. 119(2):121-7, 2011
                                            14. 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
                                            15. Riddle ND et al: CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration. Int J Clin Exp Pathol. 3(5):515-21, 2010
                                            16. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                            17. 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
                                            18. 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
                                            19. Reilly KM: Neurofibromatosis and lessons for the war on cancer. EMBO Mol Med. 1(4):198-200, 2009
                                            20. Salla JT et al: Retrospective analysis of oral peripheral nerve sheath tumors in Brazilians. Braz Oral Res. 23(1):43-8, 2009
                                            21. 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
                                            22. Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
                                            23. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                            24. Edwards PC et al: Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 102(6):765-72, 2006
                                            25. Ferner RE et al: Guidelines for the diagnosis and management of individuals with Neurofibromatosis 1 (NF1). J Med Genet. 2006
                                            26. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                            27. 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
                                            28. Hisatomi M et al: Bone deformity showing a deep coronoid notch of the mandible in a patient with neurofibromatosis type 1. Dentomaxillofac Radiol. 34(6):380-3, 2005
                                            29. 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
                                            30. Cunha KS et al: Neurofibromatosis type I with periodontal manifestation. A case report and literature review. Br Dent J. 196(8):457-60, 2004
                                            31. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                            32. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                            33. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                            34. 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
                                            35. Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
                                            36. Bekisz O et al: Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report. J Clin Periodontol. 27(5):361-5, 2000
                                            37. Holtzman L: Radiographic manifestation and treatment considerations in a case of multiple neurofibromatosis. J Endod. 24(6):442-3, 1998
                                            38. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
                                            39. Lee L et al: Radiographic features of the mandible in neurofibromatosis: a report of 10 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 81(3):361-7, 1996
                                            40. Kaplan I et al: Radiological findings in jaws and skull of neurofibromatosis type 1 patients. Dentomaxillofac Radiol. 23(4):216-20, 1994
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    • 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 (NF) of any type or 1 plexiform NF (PNF)
                                                          • Axillary/inguinal freckling (Crowe sign)
                                                          • Visual pathway glioma
                                                          • ≥ 2 Lisch nodules (optic hamartomas)
                                                          • Distinctive bony lesion
                                                            • Sphenoid wing dysplasia
                                                            • Thinning of long bones ± pseudoarthrosis
                                                          • 1st-degree relative with NF1
                                                        • Peripheral nerve sheath tumor (PNST) = schwannoma, NF
                                                        • NF: Localized, plexiform, & diffuse
                                                        • Malignant peripheral nerve sheath tumor (MPNST) more common in patients with NF1; most commonly arising in preexisting PNF

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • 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. Cung W et al: Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies". Eur J Med Genet. 58(11):584-90, 2015
                                                                                      2. Cunha KS et al: Oral manifestations of neurofibromatosis type 1 in children with facial plexiform neurofibroma: report of three cases. J Clin Pediatr Dent. 39(2):168-71, 2015
                                                                                      3. Patel S et al: Malignant peripheral nerve sheath tumour (MPNST) of mandible: solving the perplexity. BMJ Case Rep., 2015
                                                                                      4. Warhekar AM et al: A rare case report of neurofibromatosis I in HIV positive individual. J Clin Diagn Res. 9(4):ZD20-2, 2015
                                                                                      5. Javed F et al: Oral manifestations in patients with neurofibromatosis type-1: a comprehensive literature review. Crit Rev Oncol Hematol. 91(2):123-9, 2014
                                                                                      6. Vuity D et al: [A 40 year old palatal neurofibroma. A case report.] Fogorv Sz. 106(1):3-6, 2013
                                                                                      7. Asgary S et al: Unilateral gingival enlargement in patient with neurofibromatosis type I. N Y State Dent J. 78(6):50-3, 2012
                                                                                      8. Friedrich RE et al: Size of tooth crowns and position of teeth concerning the extension of facial plexiform neurofibroma in patients with neurofibromatosis type 1. Anticancer Res. 32(5):2207-14, 2012
                                                                                      9. Rawal YB et al: Mandibular abnormalities in a patient with neurofibromatosis type 1. J Tenn Dent Assoc. 92(1):29-31; quiz 32-3, 2012
                                                                                      10. Visnapuu V et al: Radiographic findings in the jaws of patients with neurofibromatosis 1. J Oral Maxillofac Surg. 70(6):1351-7, 2012
                                                                                      11. Bardellini E et al: Oral findings in 50 children with neurofibromatosis type 1. A case control study. Eur J Paediatr Dent. 12(4):256-60, 2011
                                                                                      12. Chrcanovic BR et al: Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible. J Craniomaxillofac Surg. 39(7):538-43, 2011
                                                                                      13. Heervä E et al: Short mandible, maxilla and cranial base are common in patients with neurofibromatosis 1. Eur J Oral Sci. 119(2):121-7, 2011
                                                                                      14. 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
                                                                                      15. Riddle ND et al: CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration. Int J Clin Exp Pathol. 3(5):515-21, 2010
                                                                                      16. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                                                                      17. 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
                                                                                      18. 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
                                                                                      19. Reilly KM: Neurofibromatosis and lessons for the war on cancer. EMBO Mol Med. 1(4):198-200, 2009
                                                                                      20. Salla JT et al: Retrospective analysis of oral peripheral nerve sheath tumors in Brazilians. Braz Oral Res. 23(1):43-8, 2009
                                                                                      21. 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
                                                                                      22. Lee MJ et al: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 20(2):135-41, 2007
                                                                                      23. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                                                                      24. Edwards PC et al: Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 102(6):765-72, 2006
                                                                                      25. Ferner RE et al: Guidelines for the diagnosis and management of individuals with Neurofibromatosis 1 (NF1). J Med Genet. 2006
                                                                                      26. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                                                                      27. 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
                                                                                      28. Hisatomi M et al: Bone deformity showing a deep coronoid notch of the mandible in a patient with neurofibromatosis type 1. Dentomaxillofac Radiol. 34(6):380-3, 2005
                                                                                      29. 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
                                                                                      30. Cunha KS et al: Neurofibromatosis type I with periodontal manifestation. A case report and literature review. Br Dent J. 196(8):457-60, 2004
                                                                                      31. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                                                      32. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                                                      33. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                                                                      34. 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
                                                                                      35. Rapado F et al: Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 115(2):151-4, 2001
                                                                                      36. Bekisz O et al: Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report. J Clin Periodontol. 27(5):361-5, 2000
                                                                                      37. Holtzman L: Radiographic manifestation and treatment considerations in a case of multiple neurofibromatosis. J Endod. 24(6):442-3, 1998
                                                                                      38. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
                                                                                      39. Lee L et al: Radiographic features of the mandible in neurofibromatosis: a report of 10 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 81(3):361-7, 1996
                                                                                      40. Kaplan I et al: Radiological findings in jaws and skull of neurofibromatosis type 1 patients. Dentomaxillofac Radiol. 23(4):216-20, 1994