Introduction

Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainlynon-cancerous ( benign ) tumours to develop in different parts of the body.

The tumours most often affect the brain,skin, kidneys, heart, eyes and lungs.

Tuberous sclerosisis present from birth, although it may not cause obvious problems immediately. It's estimated that around 1in every 6,000 babies are born with the condition.

What problems cantuberous sclerosiscause?

Thetumours caused by tuberous sclerosis canresult in a range of associated health problems, including:

• Epilepsy a condition that causes seizures (fits)
• learning disabilities
• behavioural problemssuch as hyperactivity or an autistic spectrum disorder
• skin abnormalitiessuch as patches of light-coloured or thickened skin, or red acne-like spots on the face
• the kidneys not working properly
• breathing difficulties
• a build-up of fluid on the brain( hydrocephalus )

These problems can range frommild to severe, andit's possible to have only a few of these problems or a wide range of problems. Members of the same family maybe affected very differently by tuberous sclerosis.

These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.

In around three in every four cases, the genetic fault occurs for no apparent reason in people without any other affected family members.

In the remaining one in four cases, the fault is passed on to a child by their parents. Only one parent needs to carry the faulty gene to pass it on, and a parent who has one of the faulty genes has a one in two chance of passing it on to each child they have.

The parent carrying the faulty gene will also have tuberous sclerosis, although sometimes it may be so mild that they don't realise it.

How tuberous sclerosis is treated

There is currently no cure for tuberous sclerosis, but there is a range of treatments for many of problems caused by the condition.

For example:

• epilepsy may be controlled with medication, or in some cases surgery
• extra educational support can help children with learning disabilities
• challenging behaviour and psychiatric problems (such as autism, anxiety or depression) can be treated with behavioural interventions and medication
• brain tumours can be surgically removed or shrunk with medication
• the facial rash can be treated with laser therapy and/or medication applied to the skin
• medication can control symptoms caused by reduced kidney function and can help to shrink kidney tumours
• lung problems can be treated with medication

Research has found that mTOR inhibitors, which interrupt thechemical reactions needed for tumours to grow, may be a very useful treatment in the future.

People with tuberous sclerosis will also need to have regular tests to monitor the function of the organs that can be affected by the condition.

Some people havefew symptomsand the conditionhaslittle impact on their life, while others particularly those with a faulty TSC2 gene or obvious problems from an early age can have severe and potentially life-threatening problems that require lifelong care.

Many people will have a normal lifespan, although a number of life-threatening complicationscan develop. These include a loss of kidney function,a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus.

People with tuberous sclerosis may also be at an increased risk of developing certain types of cancer, such as kidney cancer , but this is rare.