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Tuberous sclerosis complex

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What is tuberous sclerosis complex (TSC)?

Tuberous sclerosis complex (too-ber-us sklair-oh-sis com-plex), is a condition that causes skin changes as well as tumors (lumps) in the brain, kidneys, heart, eyes, and lungs. The tumors are not cancer.

TSC affects about 1 in 6,000 births. About 50,000 people in the United States have it.  TSC affects all races and both sexes equally.

What causes TSC?

TSC is a genetic condition. This means it is caused by a mutation (change) in either the TSC1 gene or the TSC2 gene. It is present at birth, and nothing can prevent it. See the education sheet, “Genetic conditions.”

About one third of all people with TSC have inherited the gene that causes it from a parent. The other two thirds of people with TSC have it because of a new change in the gene.

When a person with TSC has a child, there is a 50% chance that the baby will receive the TSC gene.

How is it diagnosed?

The doctor will do a physical exam and some tests will be done to see if tumors or cysts are present in parts of the body. Because many of the features develop over time, it might not be diagnosed until later in life, especially if no one else in the family has it.

People have TSC if they have a combination of some of the following features.

       
Features  
Major Minor Diagnosis of TSC?
2     yes
1 + 2 yes
1 + 1 probably
1 or 2 or more maybe

Major features

Skin changes:

  • facial angiofibromas – small red bumps on the face, usually across cheeks and nose; they look like acne
  • plaque (thickened skin) on the forehead or scalp
  • ungual fibromas – lumps or bumps at the base of or under fingernails or toenails
  • three or more hypomelanotic macules (light patches of skin) in any location, any size, and any shape
  • shagreen patch – a thickened and dimpled patch of skin that has the texture of an orange-peel, often on the lower back

Brain changes:

  • cortical tubers – parts of the outer layer of brain that did not develop correctly; they are like birthmarks on the brain, and can cause seizures
  • subependymal nodules near the walls of the ventricles (hollow areas inside the brain containing fluid); the nodules usually get bigger during the first few months or years of life, but do not cause seizures
  • Subependymal Giant Cell Astrocytoma (SEGA) – large tumor that happens in 15% of people with TSC

Other tumors:

  • multiple retinal nodular hamartomas (changes in the eye)
  • cardiac rhabdomyomas – tumors in the heart (most often seen in infants or young children, these usually get smaller or go away with age)
  • lymphangiomyomatosis (LAM) – cysts in the lungs, most often seen in women of ages 20s to 30s
  • renal angiomyolipoma – tumors in the kidneys, 70-80% of adults with TSC have these

Minor features:

  • pits in the teeth
  • hamartomatous rectal polyps (growths in the rectum)
  • bone cysts
  • cerebral white matter migration lines (brain change)
  • gingival fibromas (thickened gums around the teeth)
  • non-renal hamartoma (non-cancerous growth in almost any body organ)
  • retinal achromic patch (change in the back of the eye)
  • “confetti” skin lesions (many tiny white spots)
  • cysts on the kidneys

There is a blood test to identify genetic changes that can cause TSC. See the education sheet, “Genetic conditions.”

Can other problems happen?

The following problems are more common in people with TSC and need to be watched for and treated if necessary by the doctor or nurse practitioner:

  • behavior problems, such as autism
  • developmental delay
  • seizures

What is the treatment?

There is no cure. Treatment depends on the problems the person has and may include:

Problem Treatment
behavior problems medicine and non-medicine therapies
developmental delay special education, rehabilitation therapy
eye changes regular eye exams
lung cysts (women) CT scan of the lungs before age 18
seizures medicine or surgery
skin changes dermabrasion laser treatments
tumor or cysts regular exams, CT scans, possibly surgery

How should I care for my child?

All people with TSC should be seen regularly by a doctor or nurse practitioner familiar with TSC. Referrals to specialists may be needed.

When should I call the clinic?

  • any new or uncontrollable seizure activity
  • blood in the urine
  • new or persistent pain
  • learning or behavior concerns

What else do I need to know?

Your child may have several café-au-lait (light brown) spots on the skin. These are not harmful.

The features of TSC can be very different among people in the same family. There is no way to predict what problems a person will have or how serious those problems will be.  Some people may only have the skin changes. Other people may have more problems.  Some of these problems happen later in life.

Questions?

This sheet is not specific to your child, but provides general information.  If you have any questions, please call your clinic.

For more information about Tuberous Sclerosis Complex visit The Tuberous Sclerosis Alliance at www.tsalliance.org

For more reading material about this and other health topics, please call or visit the Family Resource Center library.

 Reviewed 7/2015

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This page is not specific to your child, but provides general information on the topic above. If you have any questions, please call your clinic. For more reading material about this and other health topics, please call or visit Children's Family Resource Center library, or visit www.childrensmn.org/educationmaterials.

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