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|
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.