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 |