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Tuberous Sclerosis
Carlos S. Restrepo, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Tuberous sclerosis complex (TSC)
                • Lymphangioleiomyomatosis (LAM)
                • Multifocal micronodular pneumocyte hyperplasia (MMPH)
              • Synonyms

                • Bourneville disease, Bourneville-Pringle disease
              • Definitions

                • Rare multisystem autosomal dominant hereditary neurocutaneous disorder characterized by multifocal hamartomas and benign and malignant neoplasms
                  • Typically affects brain, skin, retina, kidney, heart, and lung
                  • Classic triad of facial angiofibromas, epilepsy, and mental retardation (Vogt triad)
                  • Pulmonary involvement: LAM &/or MMPH
                  • TSC-LAM is 5-10 times more common than sporadic LAM (S-LAM)
                • TSC is 2nd most common phakomatosis after neurofibromatosis type 1

              IMAGING

              • Radiographic Findings

                • 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

                                      • Diagnosis

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              Selected References

                                              1. Burt J et al: Myocardial fatty foci in tuberous sclerosis complex: imaging findings. Cureus. 14;8(7):e693, 2016
                                              2. Johnson SR et al: Lymphangioleiomyomatosis. Clin Chest Med. 37(3):389-403, 2016
                                              3. von Ranke FM et al: Tuberous sclerosis complex: state-of-the-art review with a focus on pulmonary involvement. Lung. 193(5):619-27, 2015
                                              4. Cudzilo CJ et al: Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 144(2):578-85, 2013
                                              5. Shaaya EA et al: Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 161A(7):1662-5, 2013
                                              6. Ryu JH et al: Cystic lung disease is not uncommon in men with tuberous sclerosis complex. Respir Med. 106(11):1586-90, 2012
                                              7. Kobashi Y et al: Clinicopathological analysis of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis in Japan. Respirology. 13(7):1076-81, 2008
                                              8. Umeoka et al: Pictorial Review of Tuberous Sclerosis in Various Organs. RadioGraphics. (28) 2008
                                              9. Ryu JH et al: The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am J Respir Crit Care Med. 173(1):105-11, 2006
                                              10. Ristagno RL et al: Multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis. AJR Am J Roentgenol. 184(3 Suppl):S37-9, 2005
                                              11. Franz DN et al: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 164(4):661-8, 2001
                                              12. Moss J et al: Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med. 164(4):669-71, 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

                                                            • Tuberous sclerosis complex (TSC)
                                                            • Lymphangioleiomyomatosis (LAM)
                                                            • Multifocal micronodular pneumocyte hyperplasia (MMPH)
                                                          • Synonyms

                                                            • Bourneville disease, Bourneville-Pringle disease
                                                          • Definitions

                                                            • Rare multisystem autosomal dominant hereditary neurocutaneous disorder characterized by multifocal hamartomas and benign and malignant neoplasms
                                                              • Typically affects brain, skin, retina, kidney, heart, and lung
                                                              • Classic triad of facial angiofibromas, epilepsy, and mental retardation (Vogt triad)
                                                              • Pulmonary involvement: LAM &/or MMPH
                                                              • TSC-LAM is 5-10 times more common than sporadic LAM (S-LAM)
                                                            • TSC is 2nd most common phakomatosis after neurofibromatosis type 1

                                                          IMAGING

                                                          • Radiographic Findings

                                                            • 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

                                                                                  • Diagnosis

                                                                                    • Natural History & Prognosis

                                                                                      • Treatment

                                                                                        DIAGNOSTIC CHECKLIST

                                                                                        • Consider

                                                                                          Selected References

                                                                                          1. Burt J et al: Myocardial fatty foci in tuberous sclerosis complex: imaging findings. Cureus. 14;8(7):e693, 2016
                                                                                          2. Johnson SR et al: Lymphangioleiomyomatosis. Clin Chest Med. 37(3):389-403, 2016
                                                                                          3. von Ranke FM et al: Tuberous sclerosis complex: state-of-the-art review with a focus on pulmonary involvement. Lung. 193(5):619-27, 2015
                                                                                          4. Cudzilo CJ et al: Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 144(2):578-85, 2013
                                                                                          5. Shaaya EA et al: Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 161A(7):1662-5, 2013
                                                                                          6. Ryu JH et al: Cystic lung disease is not uncommon in men with tuberous sclerosis complex. Respir Med. 106(11):1586-90, 2012
                                                                                          7. Kobashi Y et al: Clinicopathological analysis of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis in Japan. Respirology. 13(7):1076-81, 2008
                                                                                          8. Umeoka et al: Pictorial Review of Tuberous Sclerosis in Various Organs. RadioGraphics. (28) 2008
                                                                                          9. Ryu JH et al: The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am J Respir Crit Care Med. 173(1):105-11, 2006
                                                                                          10. Ristagno RL et al: Multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis. AJR Am J Roentgenol. 184(3 Suppl):S37-9, 2005
                                                                                          11. Franz DN et al: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 164(4):661-8, 2001
                                                                                          12. Moss J et al: Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med. 164(4):669-71, 2001