What are major features of tuberous sclerosis complex (TSC)?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Answer

Major features of TSC include the following:

  • Facial angiofibromas or forehead plaque

  • Nontraumatic ungual or periungual fibroma

  • Hypomelanotic macules (>3)

  • Shagreen patch (connective tissue nevus)

  • Multiple retinal nodular hamartoma

  • Cortical tuber: When cerebellar cortical dysplasia and cerebral white matter migration tracts occur together, they should be counted as one rather than two features of tuberous sclerosis.

  • Subependymal nodule

  • Subependymal giant cell astrocytoma

  • Cardiac rhabdomyoma, single or multiple

  • Lymphangioleiomyomatosis: When both lymphangioleiomyomatosis (LAM) and renal AMLs are present, other features of tuberous sclerosis should be present before a definite diagnosis is assigned. As many as 60% of women with sporadic LAM (and not TSC) may have a renal or other AMLs.

  • Renal AML: When both LAM and renal AMLs are present, other features of tuberous sclerosis should be present before a definite diagnosis is assigned (see previous remarks).


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