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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
- Rare multisystem autosomal dominant hereditary neurocutaneous disorder characterized by multifocal hamartomas and benign and malignant neoplasms
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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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
- Rare multisystem autosomal dominant hereditary neurocutaneous disorder characterized by multifocal hamartomas and benign and malignant neoplasms
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
