Table 4.

Tuberous sclerosis complex clinical features and diagnosis

Diagnostic criteria for tuberous sclerosis complex 2012
A. Genetic diagnostic criteria	The identification of either a TSC1 or a TSC2 pathogenic mutation in DNA from normal tissue is sufficient enough to make a definite diagnosis of Tuberous Sclerosis Complex (TSC)
B. Clinical diagnostic criteria	Major features	1. Hypomelanotic macules (≥ 3, at least 5-mm diameter) 2. Angiofibromas (≥ 3) or fibrous cephalic plaque 3. Ungual fibromas (≥ 2) 4. Shagreen patch 5. Multiple retinal hamartomas 6. Cortical dysplasias a 7. Subependymal nodules 8. Subependymal giant cell astrocytoma 9. Cardiac rhabdomyoma 10. Lymphangioleiomyomatosis (LAM)b 11. Angiomyolipomas (≥ 2) b	Definite diagnosis: Two major features or one major feature with ≥ 2 minor features Possible diagnosis: Either one major feature or ≥ 2 minor features
	Minor features	1. “Confetti” skin lesions 2. Dental enamel pits (> 3) 3. Intraoral fibromas (≥ 2) 4. Retinal achromic patch 5. Multiple renal cysts 6. Nonrenal hamartoma

^aIncludes tubers and cerebral white matter radial migration lines

^bA combination of the two major clinical features (LAM and angiomyolipomas) without other features does not meet criteria for a definite diagnosis. A combination of these two major clinical features does not meet criteria for a definite diagnosis