Beginning Your Journey

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.