Tuberous sclerosis

Tuberous sclerosis is a rare genetic condition that causes non-cancerous (benign) tumours to develop in different parts of the body including:

• the skin,
• brain,
• heart,
• skin,
• eyes,
• kidneys, and
• lungs.

Associated conditions and complications

The benign tumours that develop from tuberous sclerosis can, in turn, cause a range of other associated health conditions and complications. These include:

• Epilepsy.
• Low intelligence.
• Learning difficulties.
• Behavioural problems such as hyperactivity or
  autism (a developmental disorder that affects a person’s ability to communicate and relate to others and the outside world).
• Abnormal skin development.
• Heart problems.
• Kidney disease.

The range and severity of associated health conditions and complications caused by tuberous sclerosis can vary significantly from person to person, even among members of the same family.

For example, some people with tuberous sclerosis don't have many symptoms, and it has no real impact on their quality of life. For others, tuberous sclerosis can severely affect their intellectual development or may cause life-threatening complications such as lung failure and require life-long care.

How common is tuberous sclerosis?

Tuberous sclerosis is a rare condition that affects one in every 6,000 births. The condition is caused by mutations that can develop in one of two genes: the TSC1 gene or the TSC2 gene.

As both of these genes are involved in regulating cell growth, it is thought that the mutations to them are responsible for causing multiple benign tumours to develop.

Prognosis

The prognosis depends on two main factors:

• Whether the mutation occurred in the TSC1 or TSC2 gene. People with a mutated TSC2 gene often have more serious and wide-ranging symptoms, such as epilepsy or multiple kidney tumours.
• Being born with low intelligence. Children born with low intelligence often have associated behavioural problems, such as autism or aggressive outbursts.

There is currently no cure for tuberous sclerosis but there is a range of treatments that can help to treat many of the associated symptoms.