What Is Tuberous Sclerosis?
Tuberous sclerosis (TOO-bur-iss skluh-ROE-sis) is a condition that causes the growth
of noncancerous (benign) tumors. This happens when cells grow out of control and divide
more than they should.
The tumors caused by tuberous sclerosis are called hamartomas
(ham-ar-TOE-muhs). Hamartomas can grow in many parts of the body. They mostly affect
the skin, brain,
kidneys, heart, eyes, and lungs.
Tuberous sclerosis is also called tuberous sclerosis complex (or TSC).
What Are the Signs & Symptoms of Tuberous Sclerosis?
Tuberous sclerosis symptoms can range from mild to severe. Some children have only
mild skin changes, such as pale patches, thickened skin, or a facial rash that looks
like acne.
Symptoms often depend on where the tumors are:
Brain: Hamartomas in the brain
can cause seizures, developmental delay, anxiety,
intellectual disability, ADHD,
behavior problems, and autism.
About half of kids with tuberous sclerosis have intellectual disabilities.
Kidneys: Hamartomas in the kidneys
can cause problems with how they work and even lead to kidney failure.
Heart: Hamartomas can block blood flow or change the heart's rhythm.
Heart hamartomas usually
get smaller as a child grows.
Eyes:
Hamartomas on the retina can affect vision.
Lungs: Hamartomas can cause coughing,
trouble breathing, or a buildup of fluid around the lung.
Girls tend to have more serious lung problems than boys, but these do not become a
problem until adulthood.
Early signs that a child has tuberous sclerosis often include:
- seizures (uncontrolled
shaking of the body)
- developmental delay (walking, talking, or other new skills happen later than in
most children)
Sometimes, doctors suspect TSC before birth if a mother's ultrasound
shows the baby has a heart tumor (called a rhabdomyoma).
What Causes Tuberous Sclerosis?
Tuberous sclerosis can be inherited or happen randomly:
Inherited. Most cases of tuberous sclerosis are due to a genetic
mutation (a change in a person's DNA) in one of two genes, TSC1 or TSC2. A baby will
be born with tuberous sclerosis if the child inherits a TS gene from either parent.
Randomly. In other cases, both parents of a child with tuberous
sclerosis have normal DNA (no TS gene). This is called a new or spontaneous mutation.