What Is Tuberous Sclerosis?
Tuberous sclerosis (TS), or tuberous sclerosis complex (TSC), is
a rare genetic condition that causes noncancerous, or benign, tumors to grow in
your brain, other vital organs, and skin.
Sclerosis means “hardening of tissue,” and tubers are root-shaped
TS can be inherited or caused by spontaneous gene mutation. Some
people only have mild symptoms, while others experience:
- developmental delay
- intellectual disability
- skin abnormalities
This disorder can be present at birth, but symptoms may be mild at
first, taking years to develop fully.
There’s no known cure for TS, but most people can expect to have a
normal lifespan. Treatments are targeted at individual symptoms, and careful
monitoring by your doctor is advised.
How Prevalent Is Tuberous Sclerosis?
Approximately 1 million people have been diagnosed with TS around
the world, and according to the Tuberous Sclerosis
Alliance (TSA), there are about 50,000 cases in the United States. The
condition is very difficult to recognize and diagnose, so the actual number of
cases could be higher.
The TSA also reports that approximately one-third of cases are
inherited, and two-thirds are thought to occur from spontaneous genetic mutation.
If one parent has TS, their child has a 50 percent chance of inheriting it.
Genetics of Tuberous Sclerosis
Scientists have identified two genes called TSC1 and TSC2. These
genes can cause TS, but having only one of these can result in the disease.
Researchers are working to find out exactly what each of these genes do and how
they affect TS, but they think the genes suppress tumor growth and are
important in the fetal development of the skin and brain.
A parent with a mild case of TS may not even be aware of the
condition until their child is diagnosed. Two-thirds of cases of TS are the
result of spontaneous mutation, with neither parent passing on the gene. The
reason for this mutation is a mystery, and there’s no known way to prevent it.
A diagnosis of TS can be confirmed with genetic tests. When
considering genetic testing for family planning, it’s important to remember
that only one-third of TS cases are inherited. If you have a family history of
TS, it’s possible to get genetic testing to see if you carry the gene.
Signs and Symptoms of Tuberous Sclerosis
There’s a broad range of symptoms of TS, which vary greatly from one
person to another. Very mild cases can present few, if any, symptoms, and in
other cases, people have a variety of intellectual and physical disabilities.
The symptoms of TS can include:
- developmental delays
- intellectual disabilities
- an abnormal heart rhythm
- noncancerous tumors of the brain
- calcium deposits on the brain
- noncancerous tumors of the kidneys or heart
- growths around or underneath the fingernails and
- growths on the retina or pale patches on the eye
- growths on the gums or tongue
- pitted teeth
- areas of the skin that have decreased pigment
- red patches of skin on the face
- raised skin with a texture like an orange peel,
which is usually on the back
Diagnosing Tuberous Sclerosis
TS is diagnosed by genetic testing or a
series of tests that includes:
- an MRI of the brain
- a CT scan of the head
- an electrocardiogram
- an echocardiogram
- a kidney ultrasound
- an eye exam
- looking at your skin under an Wood’s
lamp, which emits ultraviolet light
Seizures or delayed development are often the first sign of TS.
There’s a wide range of symptoms associated with this condition, and a precise
diagnosis will require a CT scan and an MRI along with a full clinical exam.
Tumors from Tuberous Sclerosis
Tumors from TS aren’t cancerous, but they may become very
dangerous if they’re not treated.
- Brain tumors
can block the flow of cerebral spinal fluid.
- Heart tumors can cause problems at
birth by blocking blood flow or causing an irregular heartbeat. These tumors
are usually large at birth but generally get smaller as your child ages.
- Large tumors can get in the way of
normal kidney function and lead to kidney failure.
- If tumors in the eye grow too large,
they can block the retina, causing vision loss or blindness.
Treatment Options for Tuberous Sclerosis
Because symptoms can vary so much, there’s no universal treatment
for TS and treatment is planned for each individual. A treatment plan must be
tailored to meet your needs as symptoms develop. Your doctor will conduct
regular exams and monitor you throughout your life. Monitoring should also include
regular kidney ultrasounds to check for tumors.
Here are some treatments for specific symptoms:
Seizures are very common among people with TS. They can impact your
quality of life. Medications can sometimes bring seizures under control. If you
have too many seizures, brain surgery can be an option.
Mental Disability and Developmental Delay
The following are all used to help those who have mental and developmental
- special educational programs
- behavioral therapy
- occupational therapy
Growths on Skin
Your doctor can use a laser to remove small growths on the skin
and improve your skin’s appearance.
Surgery can be done to remove tumors and improve the function of
In April 2012, the U.S.
Food and Drug Administration granted accelerated approval for use of a drug
This drug can be used in adults with TS who have benign tumors of the kidney.
As medical care continues to advance, treatment for the symptoms of TS is also
improving. Research is ongoing. Currently, there’s no cure.
What Is the Long-Term Outlook for People with Tuberous Sclerosis?
If your child shows signs of developmental delay, behavioral
problems, or mental impairment, early intervention can significantly improve
their ability to function.
Serious complications from TS include uncontrollable seizures and
tumors of the brain, kidney, and heart. If these complications aren’t treated, they
can lead to premature death.
People diagnosed with TS should find a doctor who understands how
to monitor and treat their condition. Because symptoms vary so greatly in each
person, so does long-term outlook.
There’s no known cure for TS, but you can expect to have a normal
lifespan if you have good medical care.