Diagnostic criteria for tuberous sclerosis complex67
| Primary features | Secondary features | Tertiary features |
|---|---|---|
| Facial angiofibromas1-150 | Affected first degree relative | Hypomelanotic macules1-150 |
| Multiple ungual fibromas1-150 | Cardiac rhabdomyoma | “Confetti” skin lesions |
| Cortical tuber (H) | Cerebral tubers | Renal cysts |
| Multiple calcified subependymal nodules (R) Multiple retinal astrocytomas1-150 Subependymal nodule or giant cell astrocytoma (H) | Other retinal hamartoma or achromic patch1-150
Forehead plaque Renal cysts (H) Pulmonary lymphangioleiomyomatosis (H) Renal angiomyolipoma (H or R) Shagreen patch1-150 Non-calcified subependymal nodules (H) | Randomly distributed dental enamel pits Hamartomatous rectal polyps (H) Bone cysts (R) Pulmonary lymphangioleiomyomatosis (R) Gingival fibromas1-150 Hamartoma of other organs (H) Cerebral white matter “migration tracts” or heterotopias Infantile spasms |
↵1-150 Histological confirmation is not required if the lesion is clinically obvious.
(H) = histological confirmation required; (R) = radiographic confirmation required.