Table 1 Criteria for the clinical diagnosis of TSC [1]
| Criteria | Description | Observed in the proband |
|---|---|---|
| Major | Facial angiofibroma | ✓ |
| Ungueal/peri-ungueal fibroma | ||
| Hypomelanotic macules | ||
| Subependymal nodules | ✓ | |
| Cortical tubers | ✓ | |
| Subependymal giant cell astrocitoma (SEGA) | ||
| Multiple nodular retinal hamartomas | ||
| Cardiac rhabdomyoma | ||
| Renal angiomyolipoma | ✓ | |
| Lynphangiomyomatosis | ||
| Minor | Multiple dental enamel macules | |
| Rectal polyps | ✓ | |
| Osseous cysts | ||
| Abnormal migration tracts of the White matter | ||
| Gengival fibromas | ||
| Non-renal hamartomas | ||
| Multiple renal cysts | ||
| “Confetti” skin lesions |