Table 1: Diagnostic criteria for tuberous sclerosis complex, as described by the 2012 International Tuberous Sclerosis Complex Consensus Conference [3]. Table adapted from Northrup & Krueger [3].
|
Genetic Diagnostic Criteria |
Clinical Diagnostic Criteria |
|
|
Major Features |
Minor Features |
|
|
TSC1 or TSC2 mutations |
Hypomelanotic macules Angiofibromas Ungual fibromas Shagreen patches Multiple retinal hamartomas Cortical dysplasias Subependymal nodules Subependymal giant cell astrocytoma Cardiac rhabdomyoma Lymphangioleiomyomatosis Angiomyolipomas |
“Confetti” skin lesions Dental enamel pits Intraoral fibromas Retinal achromic patch Multiple renal cysts Nonrenal hamartomas
|