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Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)

The diagnostic criteria for tuberous sclerosis complex (TSC) were revised at the Tuberous Sclerosis Complex Consensus Conference, July 1998.

Definite TSC: Two major features or one major feature plus two minor features

Probable TSC: One major feature plus one minor feature

Possible TSC: One major feature or two or more minor features

Major Features

  • Facial angiofibromas or forehead plaque
  • Nontraumatic ungual or periungual fibromas
  • Hypomelanotic macules (three or more)
  • Shagreen patch (connective tissue nevus)
  • Multiple retinal nodular hamartomas
  • Cortical tuber 1
  • Subependymal nodule
  • Subependymal giant cell astrocytoma
  • Cardiac rhabdomyoma, single or multiple
  • Lymphangiomyomatosis 2
  • Renal angiomyolipoma 2

Minor Features

  • Multiple randomly-distributed pits in dental enamel
  • Hamartomatous rectal polyps
  • Bone cysts
  • Cerebral white matter radial migration lines 1,3
  • Gingival fibromas
  • Nonrenal hamartoma
  • Retinal achromic patch
  • "Confetti" skin lesions
  • Multiple renal cysts

 

1. Cerebral cortical dysplasia and cerebral white matter migration tracts occurring together are counted as one rather than two features of TSC.
2. When both lymphangiomyomatosis and renal angiomyolipomas are present, other features of tuberous sclerosis must be present before TSC is diagnosed.
3. White matter migration lines and focal cortical dysplasia are often seen in individuals with TSC; however, because these lesions can be seen independently and are relatively nonspecific, they are considered a minor diagnostic criteria for TSC.

 

References:

  1. Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 1999 Jun;14(6):401-7. [Medline]
  2. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006 Sep 28;355(13):1345-56. [Medline]

Created: July 05, 2005
Last Modified: 10/02/2006