Tuberous Sclerosis
What is it?
Rare (1 in 6,000 newborns estimated), multi-system genetic disease that causes benign tumors to grown in the brain and on other vital organs such as: heart, kidneys, eyes, skin and lungs
Commonly affects central nervous system which can cause a combination of issues.
Causes
Defects, or mutations on the two genes: TSC1 and TSC2
Only one gene needs to have the mutation/defect to be present
TSC1 is on chromosome 9 and produces protein called hamartin
TSC2: on chromosome 16 and produces a protein tuberin
Symptoms
Effects different parts of the body so it can cause a variety of signs and symptoms
Is different from person to person on signs and symptoms
Commonly: seizures, cognitive delays, behavior problems and skin abnormalities
Tumors can grown in nearly any organ most common on brain, kidneys, heart, lungs and skin
Wide variety of skin conditions can also occur most don't cause issues
Treatment
No cure
Drugs have been approved to treat benign tumors
Seizure meds would be given if seizures are present or behavior meds for behavior problems
Lifelong condition that requires close monitoring of doctors