MedPix Video - Phakomatoses: Tuberous Sclerosis Radiologic-Pathologic Correlation
Channel: James Smirniotopoulos
Date: 2020-06-09

Demographics:
Autosomal Dominant
 No Racial/Sexual Predilection
 Prevalence estimated at ~ 1/6-11,000
 High Spontaneous Mutation (up to 50%)
 High Penetrance (more than 90%) on imaging
 “sporadic cases" may be over‑reported
 Multiple Genes
 TSC1 ‑ 9q
 TSC2 ‑ 16p

Manifestations by Organ/System:
Skin ~ 100%
Hypomelanotic macules ~90-100%
Facial angiofibroma ~75-90%
Shagreen patch ~50%
Forehead plaque 20-40%
Ungual fibromas – 88%
Retinal hamartoma 30-50%
CNS greater than 90%
Cortical dysplasia ~90%
Subependymal nodules 70-80%
SEGA 5-20%
Seizures more than 80%
TSC Associated Neuropsychiatric Disorder (TAND) ~90%
Kidney ~80% by age 11
AML ~70%
Cysts ~20-30%
RCC less than 3%
Cardiac rhabdomyoma  47%-67%
Lung LAM up to 30-80% in F  older 40 yrs