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tuberous_sclerosis [2025/02/23 23:47] – Scott Larsontuberous_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====
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     * 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_hamartoma.png|}}+    * {{::retinal_hamartoma.jpg|}}
   * 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
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 ====Other Findings==== ====Other Findings====
-  * Angiofibromatosis  +  * Brain (leading cause of morbidity) 
-  * Seizures +    *subependymal nodules 
-  * Developmental delay+    *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==== ====Etiology====
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 ====Resources==== ====Resources====
-  * {{::ophthalmic_manifestations_of_tuberous_sclerois-a_review.pdf | Hodgson N et al. Ophthalmic manifestations of tuberous sclerosis: a review. Clinical and Experimental Ophthalmology 2017;45:81-86}} +  * [[https://www.ncbi.nlm.nih.gov/books/NBK1220/|Tuberous Sclerois Complex in Gene Reviews]] 
-  * [[https://childrenseye.org/filerun/my-files/wl/?id=ezlG5WAf3QrEghVrujQ4x1ungrUVyLCE|Larson, SA. Lecture: Peditric Primary Intraocular Tumors ]]+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EVD_lW3jlI1Hl-7598XM2iMBGFZ1InOEprGzgt5JpvlOBw?e=uMxmAq | Hodgson N et al. Ophthalmic manifestations of tuberous sclerosis: a review. Clinical and Experimental Ophthalmology 2017;45:81-86]] 
 +  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EbK3lI7wIf1Fs2bMrAdeMzoBIWMDSLAcNTl04LrjuawFSA?e=2iRKDA|Larson, SA. Lecture: Peditric Primary Intraocular Tumors ]]
  
 {{tag>syndrome phakomatosis}} {{tag>syndrome phakomatosis}}