Tuberous Sclerosis Complex -CEW

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====== Tuberous Sclerosis Complex ======

====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 "mulberry" lesions, and transitional types. 
    * 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_hamartoma.jpg|}}
  * 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's two-hit hypothesis
  * 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://www.ncbi.nlm.nih.gov/books/NBK1220/|Tuberous Sclerois Complex in Gene Reviews]]
  * [[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}}
syndrome phakomatosis