Also known as: tuberous sclerosis complex or TSC
What is tuberous sclerosis?
Tuberous sclerosis is a rare genetic disease, often diagnosed during infancy or childhood, that causes benign (noncancerous) tumors to grow in many parts of the body, including the brain, heart, kidneys, lungs and skin.
What causes tuberous sclerosis?
In about a third of children it is caused by inheriting two altered genes (TSC1 and TSC2). These two genes are responsible for two proteins, hamartin and tuberin, which are thought to prevent cells from growing too fast. When they don't work properly cells don't stop dividing and tumors develop. The other two thirds of children have a new mutation in those genes.
What are the symptoms of tuberous sclerosis?
Signs and/or symptoms may occur at birth or develop later. Symptoms depend on how many tumors a child has, how large they are and where the tumors grow.
When in the brain they may cause seizures, intellectual disability, developmental delay, behavioral and social and interaction problems.
Skin abnormalities are present in most patients and can present with what looks like acne, patches of light-colored or thickened skin or growths under or around the nail.
Lung, heart, eye and kidney-related symptoms occur when tumors involve those organs.
What are tuberous sclerosis care options?
As the tumors may be small or large, and be found in many organs, they may need very little or no treatment; or they may result in life-threatening problems.As there is no cure for tuberous sclerosis, treatment is focused on treating where necessary, the symptoms present in each patient. Careful monitoring by your child’s physician is advised.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: September 09, 2020 11:11 AM