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Tuberous Sclerosis
Donna G. Blankenbaker, MD, FACR; B. J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Tuberosis sclerosis complex (TSC): multiorgan genetic neurocutaneous syndrome characterized by development of hamartomas

          IMAGING

          • Radiographic Findings

            • CT Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Staging, Grading, & Classification

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Darling TN et al: TSC1 and TSC2 genotype in tuberous sclerosis complex: are other manifestations of this multisystem disease affected by genotype? Ann Am Thorac Soc. 18(5):775-7, 2021
                                2. Brakemeier S et al: Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. Sci Rep. 8(1):953, 2018
                                3. von Ranke FM et al: Imaging of tuberous sclerosis complex: a pictorial review. Radiol Bras. 50(1):48-54, 2017
                                4. Boronat S et al: Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex. Pediatr Radiol. 46(5):689-94, 2016
                                5. Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
                                6. Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
                                7. Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
                                8. Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
                                9. Adriaensen ME et al: Fatty foci in the myocardium in patients with tuberous sclerosis complex: common finding at CT. Radiology. 253(2):359-63, 2009
                                10. Bonsib SM: Renal cystic diseases and renal neoplasms: a mini-review. Clin J Am Soc Nephrol. 4(12):1998-2007, 2009
                                11. Napolioni V et al: Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 9(7):475-87, 2008
                                12. Umeoka S et al: Pictorial review of tuberous sclerosis in various organs. Radiographics. 28(7):e32, 2008
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Definitions

                                          • Tuberosis sclerosis complex (TSC): multiorgan genetic neurocutaneous syndrome characterized by development of hamartomas

                                        IMAGING

                                        • Radiographic Findings

                                          • CT Findings

                                            • MR Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  • Staging, Grading, & Classification

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Darling TN et al: TSC1 and TSC2 genotype in tuberous sclerosis complex: are other manifestations of this multisystem disease affected by genotype? Ann Am Thorac Soc. 18(5):775-7, 2021
                                                              2. Brakemeier S et al: Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. Sci Rep. 8(1):953, 2018
                                                              3. von Ranke FM et al: Imaging of tuberous sclerosis complex: a pictorial review. Radiol Bras. 50(1):48-54, 2017
                                                              4. Boronat S et al: Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex. Pediatr Radiol. 46(5):689-94, 2016
                                                              5. Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
                                                              6. Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
                                                              7. Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
                                                              8. Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
                                                              9. Adriaensen ME et al: Fatty foci in the myocardium in patients with tuberous sclerosis complex: common finding at CT. Radiology. 253(2):359-63, 2009
                                                              10. Bonsib SM: Renal cystic diseases and renal neoplasms: a mini-review. Clin J Am Soc Nephrol. 4(12):1998-2007, 2009
                                                              11. Napolioni V et al: Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 9(7):475-87, 2008
                                                              12. Umeoka S et al: Pictorial review of tuberous sclerosis in various organs. Radiographics. 28(7):e32, 2008