TSC Diagnostic Criteria
Clinical Diagnosis: TSC can be diagnosed clinically by having a healthcare provider identify specific major and minor manifestations or “features” of the disease.
| Major Criteria | Minor Criteria |
| Hypomelanotic macules (≥3; at least 5mm diameter) | “Confetti” skin lesions |
| Angiofibroma (≥3) or fibrous cephalic plaque | Dental enamel pits (≥3) |
| Ungual fibromas (≥2) | Intraoral fibromas (≥2) |
| Shagreen patch | Retinal achromic patch |
| Multiple retinal hamartomas | Multiple renal cysts |
| Multiple cortical tubers and/or radial migration lines* | Nonrenal hamartomas |
| Subependymal nodule (≥2) | Sclerotic bone lesions |
| Subependymal giant cell astrocytoma | |
| Cardiac rhabdomyoma | |
| Lymphangiomyomatosis (LAM)** | |
| Angiomyolipomas (≥2)** |
Definite TSC: 2 major features or 1 major feature with 2 minor features.
Possible TSC: Either 1 major feature or >2 minor features.
*Includes tubers and cerebral white matter radial migration lines.
**A combination of the 2 Major clinical features LAM and angiomyolipomas without other features does not meet criteria for a Definite Diagnosis.
Genetic diagnosis: A pathogenic variant in TSC1 or TSC2 is diagnostic for TSC. Most TSC-causing variants are sequence variants that clearly prevent TSC1 or TSC2 protein production. Some variants compatible with protein production (e.g., some missense changes) are well established as disease-causing. Other variant types should be considered with caution.