TSC is inherited in an autosomal dominant pattern. A wide variety of symptoms is associated with TSC as it affects all organ systems. However, skin lesions are the most characteristic sign of TSC.
Signs and symptoms:
- Skin lesions: hypomelanotic macules (87%-100% of individuals), facial angiofibromas (47%-90%), shagreen patches (20%-80%), fibrous facial plaques and ungual fibromas.
- Central nervous system lesions: cortical tubers, subependymal glial nodules, subependymal giant cell astrocytomas, seizures (including infantile spasm/hypsarrhythmia syndrome) and intellectual disability.
- Renal tumours. Types include: benign and cancerous angiomyolipoma (70% and <1% of individuals with TSC, respectively), epithelial cysts (20-30%), oncoytoma (<1%) and RCC (<3%). Extrarenal angiomyolipomas have also been reported in 13% of individuals with TSC.
- Cardiac conditions: rhabdomyomas (type of cardiac tumour; 47-67% of individuals with TSC).
- Lymphangiomyomatosis (cysts in lymphatic system of lung, chest and abdomen). May lead to pneumothorax, chylothorax or respiratory failure. Lung nodules (multifocal micronodular pneumocyte hyperplasia) also occur.
- Lesions on the retina of the eye include: hamartomas and achromic patches (hyperpigmented areas). Retinal lesions are found in 75% of individuals with TSC.
Diagnosis
- An accurate diagnosis is available by genetic testing, as the genes associated with TSC have been identified.
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