What are major features of tuberous sclerosis?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Tuberous sclerosis complex is caused by mutations in the TSC1 or TSC2 genes. Major features of this disease include the following [18] :

  • Facial angiofibromata

  • Ungual or periungual fibromas

  • Hypopigmented macules

  • Connective tissue nevi

  • Retinal hamartomas

  • Cortical tubers

  • Subependymal nodules or giant cell astrocytomas

  • Cardiac rhabdomyomas

  • Lymphangiomyomatosis

  • Renal angiomyolipomas


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