Tuberous Sclerosis

Presentation :

• Typically diagnosed in infancy/childhood
• Most often presents with seizures (most common), developmental delay, and skin manifestations
• Also causes:
  • Renal Angiomyolipoma
  • Lymphangioleiomyomatosis
  • Cardiac rhabdomyomas
  • Skin and nail lesions
    • Facial angiofibromas
      
      • Ash leaf marks (hypomelanotic macules)
        
      • Periungual fibromas
        
      • Shagreen patches (Flesh coloured orange-peel connective tissue naevi often on low back)
        

Pathophysiology :

• Autosomal dominant genetic disorders caused by germ-line mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes located on chromosomes 9q and 16p leading to loss of inhibition of mTOR
• Leads to tumor development in brain (seizures/developmental delays),

Diagnostic Testing:

Treatment :

Prognosis:

References:

• DermNet
• StatPearls