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Tuberous Sclerosis (Signs and Symptoms (skin abnormalities (hypomelanic…
Tuberous Sclerosis
Signs and Symptoms
benign tumors
seizures
mental retardation
behavior problems
skin abnormalities
hypomelanic macules
facial angiofibromas
forehead plaques
shagreen patches
ungual or subungual fibers
kidney problems
70-80%
between ages 15-30 yrs
3 types of brain tumors
cortical tubers
subependymal nodules
rhabdomyomas
tuberous sclerosis complex (TSC)
rare, miulti-system genetic disease
causes benign tumors
brain
kidneys
heart
eyes
lungs
skin
results in symptoms
seizures
developmentally delayed
behavioral problems
skin abnormalities
kidney disease
25,000 to 40,000 in US
1-2 million worldwide
Causes
defects or mutations on 2 genes
TSC1- chromosome 9- hamartin
TSC2- chromosome 16- tuberin
inherited from parent with TSC
new, spontaneous mutations where neither parent has disorder
faulty gene in affected individual
Diagnosis
presence of seizures
delayed development
white patches on skin
clinical exam
Treatment
everolimus-tumors
no cure
antiepileptic drugs- seizures
medications for behavior
intervention programs
surgery- skin lesions
rapamycin