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TUBEROUS SCLEROSIS
(Tube-er-us Scler-o-sis)
CONTENT
What is Tuberous Sclerosis
What Causes It
What are the Signs & Symptoms
How is It Treated
What is the Prognosis
What can a Parent Do
WHAT IS TUBEROUS SCLEROSIS
1. Tuberous Sclerosis is also called Tuberous Sclerosis Complex or TSC.
2. It is a rare genetic disease that is multi-system or affects many of the body’s
different organ systems.
3. Tuberous sclerosis causes benign tumors to grow in the brain and other organs such
as the kidneys, heart, eyes, and lungs and on the skin.
WHAT CAUSES IT
1. Genes are very tiny microscopic structures that happen in pairs in our body. These
gene pairs control our hereditary traits—for example, the color of our eyes or hair.
2. Tuberous sclerosis is caused by a defect or mutation (a change) of 2 genes. Only one
of the genes needs to be affected for Tuberous Sclerosis to be present.
3. Some people inherit the disease from a parent who has Tuberous Sclerosis but in
most cases the disease is spontaneous. This means neither parent has the disease
nor the defective gene, and we do not know why the child’s gene is defective or
mutated.
4. If the disease is inherited (passed from parent to child) only one parent needs to
have the gene for the disease to happen in the child.
a. The child who inherits Tuberous Sclerosis may not have the same symptoms as
the parent
b. The child may have either a milder or a more severe form of the disease
c. If a parent has the Tuberous sclerosis gene, each child they have will have a 50%
chance of developing the disease.
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WHAT ARE THE SIGNS & SYMPTOMS
1. Tuberous Sclerosis can affect any or all of the body’s systems and varies from
person to person.
2. The signs & symptoms are different and depend on the body system where the
benign tumors grow and can be very mild to quite severe.
3. Benign tumors can grow in the brain and other organs such as the kidneys, heart,
eyes, and lungs and on the skin.
4. Kidney Problems
a. Can be either cysts or angiomyolipomas (angi-o-my-o-lie-po-mas)
b. These tumors usually happen between the ages of 20 and 30
c. Cysts are usually small, few in number and cause no serious problems
d. Angiomyolipomas are the most common kidney tumor and are made up of fatty
tissue and muscle cells
e. They are usually found in both kidneys and in most cases produce no symptoms
f. Sometimes angiomyolipomas grow so large that they can cause pain or kidney
failure.
5. Brain Tumors—there are 3 types:
a. Cortical tubers form on the surface of the brain but may also appear deeper in
the brain
b. Subependymal nodules form in the walls of the ventricles of the brain (the fluidfilled cavities or hollow areas of the brain)
c. Giant-cell astrocytomas can grow and block the flow of fluid within the brain,
causing a build-up or fluid and pressure that may cause headaches or blurred
vision.
6. Heart (cardiac) Tumors
a. These tumors are called rhabdomyomas (rab-duh-my-o-mas)
b. They grow inside the ventricles (chamber or compartment) of the heart and can
block circulation of the blood within the heart
c. If the tumors do not cause a problem for the child at birth (when the tumors are
at their largest) they usually do not grow after that and probably will not be a
problem for the child as he/she grows.
7. Eye Tumors
a. These tumors are called phakomas (fa-co-mas)
b. They appear as white patches on the retina (the light-sensitive lining of the
inside of the eye) and generally do not cause loss of vision or vision problems.
8. Skin abnormalities
a. A wide variety of abnormalities can happen in people with Tuberous sclerosis and
most cause no problem
b. Some of the types of skin abnormalities are:
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 Hypomelanic macules—these are white or lighter patches of skin that appear
anywhere on the body. They are caused by a lack of skin pigment or melanin
(the substance that gives our skin its color)
 Facial angiofibromas (also called adenoma sebaceum)—these are reddish spots
or bumps that appear on the face that sometimes look like acne and are made
up of blood vessels and fibrous tissue
 Forehead plaques—these are raised, discolored areas on the forehead.
 Shagreen patches—these are thick, leathery, pebbly areas usually found on
the lower back or nape of the neck
 Ungual or subungual fibroma—these are small fleshy tumors that grow around
and under the toenails or fingernails. If they grow too large or cause bleeding
they will need to be removed by a surgeon.
9. Mental Abilities—About 1/2 to 2/3 of people with Tuberous sclerosis have mental
disabilities ranging from mild learning disabilities to severe mental retardation.
10. Behavior Problems may include aggressive behavior, sudden rage, attention deficit
hyperactivity disorder (ADHD), acting out, repetitive actions, or the more severe
form of self-harming behavior.
11. Some people with Tuberous Sclerosis may also have a developmental condition known
as autism.
12. Whatever your baby’s symptoms the Neonatologist will talk with you. You may also
be referred to other doctors (Specialists) after your baby is discharged from the
NICU. Your baby’s symptoms will determine which Specialists you will need to see.
HOW IS IT TREATED
1. There is no cure for Tuberous sclerosis but there are treatments for many of the
symptoms of the disease.
2. Medications can be prescribed and given to control the seizures and/or behavior
problems.
3. There are special schools and occupational therapy available for those children with
special needs or developmental problems.
4. A Dermatologist (a doctor specializing in skin diseases) may see your baby to manage
and treat the skin lesions.
5. Tuberous Sclerosis is a life-long disease. Your child will need to be seen on a regular
basis by their regular doctor (Pediatrician) as well as necessary Specialists.
WHAT IS THE PROGNOSIS
1. The prognosis (outcome) for a patient with Tuberous Sclerosis depends on their
signs and symptoms.
2. Those patients with mild symptoms usually do well and live long useful lives.
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3. Those patients with the more severe form of the disease may have serious
disabilities; however, with good, consistent medical care most people have normal life
expectancy and live into adulthood.
WHAT CAN A PARENT DO
1. An important part of the baby getting better is the parents’ love and concern.
2. We encourage you to talk and sing to your baby, gently touch or rub them and hold
them close if tolerated by the baby. Talk with your baby’s nurse about this.
3. Your love and attention will go a long way in helping your little one on the road to
recovery.
4. Keep up with your baby’s progress each time you visit or call.
Reviewed/Revised:
7/06, 9/07, 12/09
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Information is available from the follow organizations:
Tuberous Sclerosis Alliance
801 Roeder Road
Suite 750
Silver Spring, MD 20910-4467
[email protected]
http://www.tsalliance.org
Phone: 301-562-9890 or 1-800-225-6872
National Organization for Rare Disorders (NORD)
PO Box 1968
55 Kenosia Avenue
Danbury, CT 06813-1968
[email protected]
http://www.rarediseases.org
Phone: 203-744-0100 (voice mail) or 1-800-999-NORD (6673)
Epilepsy Foundation
4351 Garden City Drive
Suite 500
Landover, MD 20785-7223
[email protected]
http://www.epilepsyfoundation.org
Phone: 301-459-3700 or 1-800-EFA-1000 (332-1000)
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