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
Burt J et al: Myocardial fatty foci in tuberous sclerosis complex: imaging findings. Cureus. 14;8(7):e693, 2016
Johnson SR et al: Lymphangioleiomyomatosis. Clin Chest Med. 37(3):389-403, 2016
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
Cudzilo CJ et al: Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 144(2):578-85, 2013
Shaaya EA et al: Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 161A(7):1662-5, 2013
Ryu JH et al: Cystic lung disease is not uncommon in men with tuberous sclerosis complex. Respir Med. 106(11):1586-90, 2012
Kobashi Y et al: Clinicopathological analysis of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis in Japan. Respirology. 13(7):1076-81, 2008
Umeoka et al: Pictorial Review of Tuberous Sclerosis in Various Organs. RadioGraphics. (28) 2008
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
Ristagno RL et al: Multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis. AJR Am J Roentgenol. 184(3 Suppl):S37-9, 2005
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
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
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
Burt J et al: Myocardial fatty foci in tuberous sclerosis complex: imaging findings. Cureus. 14;8(7):e693, 2016
Johnson SR et al: Lymphangioleiomyomatosis. Clin Chest Med. 37(3):389-403, 2016
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
Cudzilo CJ et al: Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 144(2):578-85, 2013
Shaaya EA et al: Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 161A(7):1662-5, 2013
Ryu JH et al: Cystic lung disease is not uncommon in men with tuberous sclerosis complex. Respir Med. 106(11):1586-90, 2012
Kobashi Y et al: Clinicopathological analysis of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis in Japan. Respirology. 13(7):1076-81, 2008
Umeoka et al: Pictorial Review of Tuberous Sclerosis in Various Organs. RadioGraphics. (28) 2008
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
Ristagno RL et al: Multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis. AJR Am J Roentgenol. 184(3 Suppl):S37-9, 2005
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
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
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