At first, the rash is red, pin point spots which later become small lumps. Since Tuberous Sclerosis affects all systems of the body, the signs of the disease may vary according to the extent to which each system is involved. The first sign may be a white skin patch. The first neurological sign is usually epileptic fits which can be difficult to control. The angiofibroma occurs at a later age.
Abnormal growths occur in the brain and can occur in the kidney, heart, eye, bone, lung and liver.
Hyperactivity, autism and challenging behaviour can occur. In the past, doctors diagnosed Tuberous Sclerosis from a triad of epilepsy, intellectual impairment, facial rash and white patches, so it was those people who were severely affected that were diagnosed and those people who had skin markings alone or combined with epilepsy went through life undiagnosed. Tuberous Sclerosis is caused by an altered gene. The faulty gene causes abnormal development of some cells in the body. The name Tuberous Sclerosis comes from tuber like growths in the brain, which, with age calcify and become hard or sclerotic hence the name Tuberous Sclerosis.