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| tuberous_sclerosis [2025/02/23 23:40] – Scott Larson | tuberous_sclerosis [2025/06/14 03:39] (current) – [Resources] Scott Larson | ||
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| ====Main Features==== | ====Main Features==== | ||
| * Benign tumors of the brain, kidney, lung, heart and eyes. | * Benign tumors of the brain, kidney, lung, heart and eyes. | ||
| - | * A phakomatosis | + | * One of the [[phakomatoses|phakomatoses]] |
| ====Eye Findings==== | ====Eye Findings==== | ||
| Line 10: | Line 10: | ||
| * usually non-progressive but can occasionally show subretinal fluid and progression. | * 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. | * Typically located along the arcades, adjacent to the optic nerve, or in the retinal periphery. | ||
| + | * {{:: | ||
| * Retinal achromic patches 34% | * Retinal achromic patches 34% | ||
| * hypopigmented areas similar to the hypomelanotic macules seen on the skin | * hypopigmented areas similar to the hypomelanotic macules seen on the skin | ||
| Line 19: | Line 20: | ||
| ====Other Findings==== | ====Other Findings==== | ||
| - | * Angiofibromatosis | + | * Brain (leading cause of morbidity) |
| - | * Seizures | + | |
| - | * Developmental | + | *cortical tubers |
| + | *subependymal giant cell astrocytomas | ||
| + | | ||
| + | *neuropsychiatric disorders/ developmental | ||
| + | * 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==== | ====Etiology==== | ||
| Line 33: | Line 50: | ||
| * Both genes inhibit the mammalian large of rapamycin (mTOR) pathway | * Both genes inhibit the mammalian large of rapamycin (mTOR) pathway | ||
| - | ====Reference==== | + | ====Resources==== |
| - | * [[link|Title]] | + | * [[https:// |
| + | * [[https:// | ||
| + | * [[https:// | ||
| {{tag> | {{tag> | ||