Tuberous Sclerosis
What is it?
Tuberous sclerosis is a rare genetic disorder
that causes benign (non-cancerous) tumors to grow
in the brain and on other vital organs, such as
the kidneys, eyes, heart, and lungs. The growths
are also appear on the skin and are tuber-like,
meaning they look like a swollen, fleshy stem.
With age, the growths harden. It is sometimes
referred to as tuberous sclerosis complex (TSC),
Bourneville's disease, or epiloia. This disease is
poorly understood and often misdiagnosed.
Who gets it?
Tuberous sclerosis develops before birth,
occurring in 1 in 10,000 births. Males and females
are equally affected, and it can affect all races
and ethnic groups.
What causes it?
Tuberous sclerosis is a dominantly inherited
syndrome, which means at least one parent must
have the trait in order for the child to inherit
it. So, if one parent has tuberous sclerosis, the
child will have a 50% chance of having the
disease. However, approximately 80% of cases occur
because of a spontaneous mutation. Researchers
believe tumor suppressor genes are involved.
What are the symptoms?
The earliest signs of tuberous sclerosis are
patches of white skin, usually on the trunk and
limbs. Eighty percent will have epilepsy that is
difficult to control, usually by age one, and some
form of mental retardation. Other symptoms of
tuberous sclerosis are usually noticed between the
ages of 5 and 10. As the child ages, he or she
develops a rash around the nose, chin, and cheeks,
called adenoma sebaceum. This rash later turns
into small benign tumors. Abnormal growths may
develop on the brain, eyes, heart, kidneys, bones,
and lungs. Children with tuberous sclerosis may
also have behavioral problems, including
hyperactivity, rage, screaming, and autism. It is
important to keep in mind that these symptoms can
range from mild to severe and that 20% of children
with this disease will not have epilepsy or any
form of mental retardation.
How is it diagnosed?
Tuberous sclerosis is primarily diagnosed from
the presence of symptoms. However, doctors have
historically made this diagnosis only in the
presence of all four main symptoms—epilepsy,
mental retardation, facial rash, and white
patches. Because of this, children with mild
tuberous sclerosis were often never diagnosed.
There are some effective imaging studies that can
help confirm a diagnosis. These include
contrast-enhanced magnetic resonance images or
computed tomographic (CT) scans of the brain,
magnetic resonance imaging, echocardiogram, and
ultrasound scans of the abdomen. Because this
disease is dominantly inherited, these tests may
also be helpful for the child’s parents and
siblings.
What is the treatment?
Treatment for tuberous sclerosis depends upon
the severity of the symptoms. People with mild
tuberous sclerosis can lead productive lives
without the need for any treatment. For more
severe forms, treatment may include therapy to
control seizures, surgery to remove tumors that
are affecting vital organs, medication for
behavioral problems, laser removal of skin
lesions, medical treatment of kidney problems, and
therapy for developmental delays.
Self-care tips
There is currently no cure for tuberous
sclerosis. If you or your partner have this
disease, you may want to seek genetic counseling
before having children.
This information has been designed as a comprehensive and quick reference
guide written by our health care reviewers. The health information written
by our authors is intended to be a supplement to the care provided by your
physician. It is not intended nor implied to be a substitute for
professional medical advice.
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