Beginning Your Journey

TSC Diagnostic Criteria

TSC can be diagnosed clinically by having a healthcare provider identify specific major and minor manifestations or “features” of the disease.

1. Hypomelanotic macules (≥3. at least 5·mm diameter) 1. “Confetti” skin lesions
2. Angiofibromas (≥3) or fibrous cephalic plaque 2. Dental enamel pits (>3)
3. Ungual fibromas (≥2) 3. Intraoral fibromas (≥2)
4. Shagreen patch 4. Retinal achromatic patch
5. Multiple retinal hamartomas 5. Multiple renal cysts
6. Cortical dysplasias* 6. Nonrenal hamartomas
7. Subependymal nodules
8. Subependymal giant cell astrocytoma
9. Cardiac rhabdomyoma
10. Lymphangioleiomyomatosis (LAM)**
11. 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
2021 includes tubers and cerebral white matter radial migration lines
A combination of the 2 Major clinical features LAM and renal angiomyolipoma’s without other features does not meet criteria for a definite diagnosis.
Genetic Diagnosis: A pathogenic mutation in TSC1 or TSC2 is diagnostic for TSC. Pathogenic variant means that there is a confirmed genetic alteration in a gene that increases the likelihood an individual to develop symptoms associated with a certain disease.