Clinical Guidance
Tuberous sclerosis complex (TSC) involves abnormalities primarily of the skin, brain, kidneys, heart, and lungs , although any organ system can be involved. Central nervous system (CNS)-related problems (including TSC-associated neuropsychiatric disorder [TAND]) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality [, , , ]. TSC exhibits both inter- and intrafamilial variability. Table 2. Tuberous Sclerosis Complex: Frequency of Select Features
Feature | % of Persons w/Feature | Comment |
|---|
Skin lesions | ~100% | Hypomelanotic macules, "confetti" skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas |
CNS manifestations | Subependymal nodules | ~80%1 |
Cortical tubers | ~80% | — |
Subependymal giant cell astrocytoma | 25%1 | — |
Seizures | ~80% | — |
TSC-associated neuropsychiatric disorder | 90% | Behavioral, psychiatric, intellectual, academic, neuropsychological, psychosocial difficulties |
Kidney lesions | Benign renal angiomyolipoma | 70% |
Epithelial cysts | 20%-30% | — |
Renal cell carcinoma | 3% | — |
Cardiac rhabdomyomas | 47%-67% | — |
Lymphangioleiomyomatosis | Up to 80% of females | — |
Retinal lesions | 30%-50% | CNS = central nervous system; TSC = tuberous sclerosis complex 1. , The skin is affected in virtually 100% of individuals with TSC. |
Source: GeneReviews — "Tuberous Sclerosis Complex"
