Tuberous Sclerosis or Tuberous Sclerosis Complex (TS/TSC)

TSC is inherited in an autosomal dominant pattern. A wide variety of symptoms are associated with TSC as it affects many 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 and subcortical tubers (70%), subependymal glial nodules (90%), subependymal giant cell astrocytomas (6-14%), seizures (including infantile spasm/hypsarrhythmia syndrome). More than 80% of people with TSC have been reported to have seizures. Around 50% show intellectual disability or developmental delay.
  • Renal tumours, including: benign and cancerous angiomyolipoma (70% and <1% of individuals with TSC, respectively), epithelial cysts (20-30%), oncocytoma (<1%) and renal cell carcinoma (<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) and arrhythmias.
  • 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 (TSC1 and TSC2) associated with TSC have been identified.

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Publication date: September 2012
Review date: September 2015