Tuberous Sclerosis


Cases Diagnosed in Adulthood


Normal Function

TSC Genes

Mechanistic Target of Rapamycin (mTOR)

Tuberous Sclerosis is Due to an Autosomal Dominant Mutation in TSC1 or TSC2 Tumor Suppressor Genes

Tuberous Sclerosis Results in the Development of Hamartomatous Tumors in Brain/Kidney/Retina/Skin/Heart/Liver/Lung


Complete Blood Count (CBC) (see Complete Blood Count, [[Complete Blood Count]])

Erythrocyte Sedimentation Rate (ESR) (see Erythrocyte Sedimentation Rate, [[Erythrocyte Sedimentation Rate]])

Serum Vascular Endothelial Growth Factor-D (VEGF-D)

Urinalysis (see Urinalysis, [[Urinalysis]])

DNA Testing for TSC1 and TSC2 Mutations

Diagnostic Criteria for Tuberous Sclerosis Complex

General Diagnostic Criteria

Major Clinical Criteria

Minor Clinical Criteria

Clinical Manifestations

Cardiovascular Manifestations

Dermatologic Manifestations

Hematologic/Oncologic Manifestations

Increased Risk of Malignancy

Neurologic Manifestations

Ophthalmic Manifestations

Pulmonary Manifestations

General Comments

Chyloptysis (see Chyloptysis, [[Chyloptysis]])

Chylothorax (see Pleural Effusion-Chylothorax, [[Pleural Effusion-Chylothorax]])

Diffuse Alveolar Hemorrhage (DAH) (see Diffuse Alveolar Hemorrhage, [[Diffuse Alveolar Hemorrhage]])

Interstitial Lung Disease (ILD) (see Interstitial Lung Disease, [[Interstitial Lung Disease]])

Pneumothorax (see Pneumothorax, [[Pneumothorax]])

Small Airways Disease (see Obstructive Lung Disease, [[Obstructive Lung Disease]])

Renal Manifestations

Renal Benign Mesenchymal Neoplasms with Perivascular Epithelioid Cell Differentiation (PEComas)

Renal Cysts



Treatment of Tuberous Sclerosis-Associated Lung Disease

General Measures


Medroxyprogesterone Acetate (Provera, Depo-Provera) (see Medroxyprogesterone Acetate, [[Medroxyprogesterone Acetate]])

Mechanistic Target of Rapamycin (mTOR) Inhibitors (see Mechanistic Target of Rapamycin Inhibitors, [[Mechanistic Target of Rapamycin Inhibitors]]) (mTOR Inhibitors)

Treatments with No Demonstrated Clinical Benefit

Lung Transplant (see Lung Transplant, [[Lung Transplant]])

Treatment of Chylothorax (see Pleural Effusion-Chylothorax, [[Pleural Effusion-Chylothorax]])

Treatment of Seizures (see Seizures, [[Seizures]])

Treatment of Brain Tumors

Treatment of Skin Lesions

Treatment of Cardiac Rhabdomyoma

Treatment of Renal Lesions