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| tuberous_sclerosis [2025/02/23 23:02] – created Scott Larson | tuberous_sclerosis [2025/06/14 03:39] (current) – [Resources] Scott Larson | ||
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| - | ====== Tuberous Sclerosis ====== | + | ====== Tuberous Sclerosis |
| + | ====Main Features==== | ||
| + | * Benign tumors of the brain, kidney, lung, heart and eyes. | ||
| + | * One of the [[phakomatoses|phakomatoses]] | ||
| + | ====Eye Findings==== | ||
| + | * Retinal astrocytic hamartomas 34-75% of patients with TSC. | ||
| + | * flat, translucent lesions, multinodular " | ||
| + | * usually non-progressive but can occasionally show subretinal fluid and progression. | ||
| + | * Typically located along the arcades, adjacent to the optic nerve, or in the retinal periphery. | ||
| + | * {{:: | ||
| + | * Retinal achromic patches 34% | ||
| + | * hypopigmented areas similar to the hypomelanotic macules seen on the skin | ||
| + | * Usually non-progressive and do not significantly affect vision | ||
| + | * Refractive errors (myopia, hyperopia, and astigmatism), | ||
| + | * Strabismus | ||
| + | * Angiofibromas of the eyelids- rare | ||
| + | * Coloboma- rare | ||
| + | ====Other Findings==== | ||
| + | * Brain (leading cause of morbidity) | ||
| + | *subependymal nodules | ||
| + | *cortical tubers | ||
| + | *subependymal giant cell astrocytomas | ||
| + | *Seizures | ||
| + | *neuropsychiatric disorders/ developmental delay | ||
| + | * Cardiac | ||
| + | * rhabdomyomas | ||
| + | * arrhythmias | ||
| + | * Renal (leading cause of mortality) | ||
| + | * benign renal angiomyolipomas | ||
| + | * epithelial cysts | ||
| + | * oncocytoma | ||
| + | * Lungs | ||
| + | * lymphangioleiomyomatosis | ||
| + | * multifocal micro odular pheumonocyte hyperplasia | ||
| + | * Dermatologic | ||
| + | * Angiofibromatosis | ||
| + | * Shagreen patches | ||
| + | |||
| + | ====Etiology==== | ||
| + | * Autosomal Dominant with near complete penetrance but variable expressivity due to Knudson' | ||
| + | * Mutations result in unregulated cell growth leading to hamartomas | ||
| + | * Mutations in TSC1 (25%) | ||
| + | * Encodes for gene hamartin- a tumor supressor gene | ||
| + | * Chromosome 9q34 | ||
| + | * Mutations in TSC2 (75%) | ||
| + | * Encodes for gene tuberin- a tumor supressor gene | ||
| + | * Both genes inhibit the mammalian large of rapamycin (mTOR) pathway | ||
| + | |||
| + | ====Resources==== | ||
| + | * [[https:// | ||
| + | * [[https:// | ||
| + | * [[https:// | ||
| + | |||
| + | {{tag> | ||