Table 3 Consensus statement of the 2012 International Tuberous Sclerosis Complex (TSC) Consensus Conference
From: Tuberous sclerosis complex: a case report and literature review
Genetic Diagnosis | Clinical Diagnostic Criteria | |
|---|---|---|
Main Features | Secondary Features | |
There are definite loss-of-function mutations in the TSC1 and/or TSC2 genes with dysregulation of the mTOR pathway (which is sufficient but not necessary for the diagnosis of TSC). TSC1 and/or TSC2 mutations that are unclear or of no functional significance do not meet these criteria, and therefore, they cannot be used in the diagnosis of TSC. | Facial angiofibromas (≥ 3) or frontal fibrous plaque Hypopigmented macules (≥ 3 with a minimum diameter of 5 mm) Ungual fibromas (≥ 2) Shagreen patch or multiple collagenomas Multiple retinal nodular hamartomas Cortical dysplasia (cortical nodules or with white matter radial migration lines) Subependymal nodules Subependymal giant cell astrocytoma Cardiac rhambdomyoma Pulmonary lymphangioleiomyomatosis Renal angiomyolipomas (≥ 2) | Multiple dental enamel pits (≥ 3) Oral fibromas (≥ 2) Non-renal angioleiomyolipoma Multiple renal cysts Retinal achromic patch “Confetti” skin lesions |