Tuberous Sclerosis Complex
Neurocutaneous syndromes
Genes TSC1, TSC2 account for 90% of pt
Can be used to confirm diagnosis prior to the appearance of all criteria
Dx
Clinical diagnostic criteria for TSC
Definite TSC requires 2 major OR 1 major and 2 minor
Possible TSC requires 1 major OR 2 minor
Major features:
SKIN
Minor features:
SKIN
Genes TSC1, TSC2 account for 90% of pt
Can be used to confirm diagnosis prior to the appearance of all criteria
Dx
Clinical diagnostic criteria for TSC
Definite TSC requires 2 major OR 1 major and 2 minor
Possible TSC requires 1 major OR 2 minor
Major features:
SKIN
- Hypomelanotic macules (≥3, at least 5 mm diameter)
- Angiofibromas (≥3) or fibrous cephalic plaque
- Ungual (nail) fibromas (≥2)
- Shagreen patch (orange peel connective tissue naevi)
- Multiple retinal hamartomas
- Cortical dysplasias (includes tubers and cerebral white matter radial migration lines)
- Subependymal nodules
- Subependymal giant cell astrocytoma
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis (LAM)* (lung cysts) (lymph-vessel-smooth-muscle-tumor-condition)
- Angiomyolipomas (≥2)* (renal)
Minor features:
SKIN
- "Confetti" skin lesions (1 to 2 mm hypomelanotic macules)
- Dental enamel pits (≥3)
- Intraoral fibromas (≥2)
- Retinal achromic patch
- Multiple renal cysts
- Nonrenal hamartomas