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 plaque | 2. Dental enamel pits (>3) |
| 3. Ungual fibromas (≥2) | 3. Intraoral fibromas (≥2) |
| 4. Shagreen patch | 4. Retinal achromic patch |
| 5. Multiple retinal hamartomas | 5. 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.