TS Flashcards
TS: mode of inheritance and defect
AD, mutations in TSC1 (hamartin) and TSC2 (tuberin) which are suppose to block mTOR
skin findings
facial angiofibromas, ash leaf macules, shagreen patch, koenen tumor (periungual fibroma), and cafe au lait
1 cause of death
complications of seizures
2 cause of death
renal disease (renal failure, renal HTN, hemorrhage 2/2 renal angiomyolipoma)
Tx for facial angiofibromas?
topical sirolimus/rapamycin
Tx for renal or hepatic anigiomyoplipoma? or subependymal giant cell astrocytoma?
oral sirolimus or everolimus
neuro findings
cortical tubers (*pathognomonic), infantile spasms, paraventricular calcification, subependymal nodules, subependymal giant cell astrocytoma, hypsarrthymia, intellectual impairment
renal findings
renal cysts, renal cell cancer, renal angiomyolipoma
ocular findings
retinal phakomas (aka hamartomas)
cardiac findings
cardiac rhabdomyomas
lung findings
pulmonary lymphangioleiomyomatosis (LAM), pulmonary cysts
dental findings
pits in enamel, gingival fibromas
GI findings
hepatic cyst, hepatic angiomyolipoma, GI hamartomas/polyps
MAJOR diagnostic criteria for TSC (tuberous sclerosis complex)
> 3 angiofibromas, hypomelanotic macules “ash leaf” (which can be smaller “confetti size”), koenen tumor, shagreen patch, multiple retinal hamartomas, cortical dysplasia, subependymal nodules, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, angiomyolipomas
MINOR diagnostic criteria for TSC (tuberous sclerosis complex)
dental enamel pits, intraoral fibromas, ash leaf macules, non-renal hamartomas, multiple renal cysts, retinal achromic patch
