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Pediatrics
Diagnosis
Brain
Phakomatoses
Neurocutaneous Melanosis
Neurocutaneous Melanosis
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Neurocutaneous melanosis (NCM)

            • Definitions

              • Congenital phakomatosis characterized by multiple congenital melanocytic nevi (CMN) + benign or malignant melanotic lesions of CNS
                • Parenchymal CNS disease
                  • Melanosis (Ms): Focal collection of benign melanotic cells
                  • Malignant melanoma (MM)
                • Leptomeningeal CNS disease
                  • Leptomeningeal melanosis (LMs): Excess of benign melanotic cells in leptomeninges
                  • Leptomeningeal melanoma (LM): Malignant melanoma of leptomeninges

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic 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

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Habibi Z et al: Clinical follow-up of patients with neurocutaneous melanosis in a tertiary center; proposed modification in diagnostic criteria. World Neurosurg. 146:e1063-70, 2021
                                          2. Mormina E et al: Imaging and clinical features of neurocutaneous melanosis in the pediatric population. Curr Med Imaging. ePub, 2021
                                          3. Ruggieri M et al: Neurocutaneous melanocytosis (melanosis). Childs Nerv Syst. 36(10):2571-2596, 2020
                                          4. Jakchairoongruang K et al: New insights into neurocutaneous melanosis. Pediatr Radiol. 48(12):1786-96, 2018
                                          5. Sharouf F et al: Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. Childs Nerv Syst. 34(8):1471-77, 2018
                                          6. Bekiesińska-Figatowska M et al: Age related changes in brain MR appearance in the course of neurocutaneous melanosis. Eur J Radiol. 85(8):1427-31, 2016
                                          7. Barbarot S: Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi? Br J Dermatol. 173(3):639-40, 2015
                                          8. Sibbald C et al: Neurocutaneous melanosis and congenital melanocytic naevi: a retrospective review of clinical and radiological characteristics. Br J Dermatol. 173(6):1522-4, 2015
                                          9. Siddiqui MA et al: Neurocutaneous melanosis: review of a rare non-familial neuroectodermal dysplasia with newer association of cerebellopontine angle cistern lipoma. Neuroradiol J. 28(2):222-6, 2015
                                          10. Waelchli R et al: Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. Br J Dermatol. 173(3):739-50, 2015
                                          11. Jain P et al: Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol. 29(6):846-9, 2013
                                          12. Kinsler VA et al: Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol. 133(9):2229-36, 2013
                                          13. Alikhan A et al: Congenital melanocytic nevi: where are we now? Part I. Clinical presentation, epidemiology, pathogenesis, histology, malignant transformation, and neurocutaneous melanosis. J Am Acad Dermatol. 67(4):495, 2012
                                          14. Ramaswamy V et al: Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol. 54(6):563-8, 2012
                                          15. Johnson JM et al: Ultrasonographic detection of intracranial melanocytosis in an infant. Pediatr Radiol. 40(2):210-4, 2010
                                          16. Acosta FL Jr et al: Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature. J Neurosurg. 102(1 Suppl):96-100, 2005
                                          17. Hale EK et al: Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registry. Br J Dermatol. 152(3):512-7, 2005
                                          18. Di Rocco F et al: Neurocutaneous melanosis. Childs Nerv Syst. 20(1):23-8, 2004
                                          19. Hayashi M et al: Diffuse leptomeningeal hyperintensity on fluid-attenuated inversion recovery MR images in neurocutaneous melanosis. AJNR Am J Neuroradiol. 25(1):138-41, 2004
                                          20. Byrd SE et al: MR imaging of symptomatic neurocutaneous melanosis in children. Pediatr Radiol. 27(1):39-44, 1997
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Neurocutaneous melanosis (NCM)

                                                    • Definitions

                                                      • Congenital phakomatosis characterized by multiple congenital melanocytic nevi (CMN) + benign or malignant melanotic lesions of CNS
                                                        • Parenchymal CNS disease
                                                          • Melanosis (Ms): Focal collection of benign melanotic cells
                                                          • Malignant melanoma (MM)
                                                        • Leptomeningeal CNS disease
                                                          • Leptomeningeal melanosis (LMs): Excess of benign melanotic cells in leptomeninges
                                                          • Leptomeningeal melanoma (LM): Malignant melanoma of leptomeninges

                                                    IMAGING

                                                    • General Features

                                                      • CT Findings

                                                        • MR Findings

                                                          • Ultrasonographic 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

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Habibi Z et al: Clinical follow-up of patients with neurocutaneous melanosis in a tertiary center; proposed modification in diagnostic criteria. World Neurosurg. 146:e1063-70, 2021
                                                                                  2. Mormina E et al: Imaging and clinical features of neurocutaneous melanosis in the pediatric population. Curr Med Imaging. ePub, 2021
                                                                                  3. Ruggieri M et al: Neurocutaneous melanocytosis (melanosis). Childs Nerv Syst. 36(10):2571-2596, 2020
                                                                                  4. Jakchairoongruang K et al: New insights into neurocutaneous melanosis. Pediatr Radiol. 48(12):1786-96, 2018
                                                                                  5. Sharouf F et al: Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. Childs Nerv Syst. 34(8):1471-77, 2018
                                                                                  6. Bekiesińska-Figatowska M et al: Age related changes in brain MR appearance in the course of neurocutaneous melanosis. Eur J Radiol. 85(8):1427-31, 2016
                                                                                  7. Barbarot S: Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi? Br J Dermatol. 173(3):639-40, 2015
                                                                                  8. Sibbald C et al: Neurocutaneous melanosis and congenital melanocytic naevi: a retrospective review of clinical and radiological characteristics. Br J Dermatol. 173(6):1522-4, 2015
                                                                                  9. Siddiqui MA et al: Neurocutaneous melanosis: review of a rare non-familial neuroectodermal dysplasia with newer association of cerebellopontine angle cistern lipoma. Neuroradiol J. 28(2):222-6, 2015
                                                                                  10. Waelchli R et al: Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. Br J Dermatol. 173(3):739-50, 2015
                                                                                  11. Jain P et al: Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol. 29(6):846-9, 2013
                                                                                  12. Kinsler VA et al: Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol. 133(9):2229-36, 2013
                                                                                  13. Alikhan A et al: Congenital melanocytic nevi: where are we now? Part I. Clinical presentation, epidemiology, pathogenesis, histology, malignant transformation, and neurocutaneous melanosis. J Am Acad Dermatol. 67(4):495, 2012
                                                                                  14. Ramaswamy V et al: Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol. 54(6):563-8, 2012
                                                                                  15. Johnson JM et al: Ultrasonographic detection of intracranial melanocytosis in an infant. Pediatr Radiol. 40(2):210-4, 2010
                                                                                  16. Acosta FL Jr et al: Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature. J Neurosurg. 102(1 Suppl):96-100, 2005
                                                                                  17. Hale EK et al: Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registry. Br J Dermatol. 152(3):512-7, 2005
                                                                                  18. Di Rocco F et al: Neurocutaneous melanosis. Childs Nerv Syst. 20(1):23-8, 2004
                                                                                  19. Hayashi M et al: Diffuse leptomeningeal hyperintensity on fluid-attenuated inversion recovery MR images in neurocutaneous melanosis. AJNR Am J Neuroradiol. 25(1):138-41, 2004
                                                                                  20. Byrd SE et al: MR imaging of symptomatic neurocutaneous melanosis in children. Pediatr Radiol. 27(1):39-44, 1997