Tuberous sclerosis is a condition that affects many parts of the body and can also affect behaviour and thinking. If you notice signs and symptoms that could be tuberous sclerosis, you should see a doctor. There is plenty that can be done to help.
What is tuberous sclerosis?
Tuberous sclerosis is a lifelong condition that involves the overgrowth of normal tissue in many different parts of the body, including the brain, heart, skin, eyes and the kidneys. It starts before birth and can interfere with normal development of the brain.
Tuberous sclerosis is caused by an error in one of 2 genes. Most people with tuberous sclerosis have the genetic error by chance, while about one third have inherited the gene from a parent.
Symptoms of tuberous sclerosis
People with tuberous sclerosis have one or more of several symptoms. They include:
- skin abnormalities, such as red or pink spots on the face, or discolourations of the skin or nails elsewhere
- benign tumours on the brain, kidneys, heart, lungs, gut or eyes – these tumours are not cancerous but can cause problems by becoming large and blocking normal body functions
- intellectual disability
- autism spectrum disorder
- issues with learning, behaviour, thinking or mental health
These signs and symptoms usually show up when a child is aged between 2 and 6, but they can also appear earlier or later.
How is tuberous sclerosis diagnosed?
Getting a diagnosis of tuberous sclerosis can take some time because it can resemble many other conditions. The diagnosis will depend on whether your doctor sees a sufficient number of signs or symptoms.
Your doctor will conduct a physical examination, and might recommend an ultrasound or MRI scan to check for tumours. They are likely to make a referral to a neurologist for confirmation or for more testing.
You might be advised to have a genetic test. Finding an error in one of the 2 genes will confirm the diagnosis. But if the test is negative, that doesn’t rule out tuberous sclerosis.
Treatment for tuberous sclerosis
Ideally, the person affected will be cared for by a team of health professionals that can help provide the full range of care needed.
Although there is no cure for tuberous sclerosis, many symptoms can be treated effectively. For example, medication can:
- reduce the size of tumours
- control some skin complaints
- usually reduce seizures
Laser treatment can often remove unsightly facial spots. However, a range of treatments may be needed to maintain kidney, brain and lung health.
It is important to have regular check-ups to make sure the person affected is getting all the support and care they need.
With appropriate medical care, most people with tuberous sclerosis can live a normal lifespan.
If someone in the family has tuberous sclerosis, family members should think about genetic counselling.
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Last reviewed: January 2018