Table 1

Tuberous sclerosis complex diagnostic criteria: major and minor features6

Major features*Minor features*
1. Hypomelanotic macules (≥3, at least 5 mm diameter)1. ‘Confetti’ skin lesions
2. Angiofibromas (≥3) or fibrous cephalic plaque2. Dental enamel pits (>3)
3. Ungual fibromas (≥2)3. Intraoral fibromas (≥2)
4. Shagreen patch4. Retinal achromic patch
5. Multiple retinal hamartomas5. Multiple renal cysts
6. Cortical dysplasias†6. Non-renal hamartomas
7. Subependymal nodules
8. Subependymal giant cell astrocytoma
9. Cardiac rhabdomyoma
10. Lymphangioleiomyomatosis‡
11. Angiomyolipomas (≥2)‡
  • Reprinted permission from Elsevier. Reproduced from Northrup H, et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology 2013;49:243–54.

  • *Definite diagnosis=two major features or one major feature with two or more minor features. Possible diagnosis=one major feature or two or more minor features.

  • †Includes tubers and cerebral white matter radial migration lines.

  • ‡Combination of lymphangioleiomyomatosis and angiomyolipomas without other features does not meet criteria for diagnosis.