Tuberous Sclerosis (epiloia) is an autosomal dominant multi system genetic condition that is characterized by multiple tuber like hamartomas of the skin, the brain, and frequently in other vital organs. The condition develops before birth and continues to do so during the person's lifetime. It occurs in approximately 1 in 10 000 people.

Tuberous Sclerosis was first diagnosed by Bournville, a French physician over 100 years and classic triad of adenoma sebaceum, mental deficiency, and epilepsy is present in only 25% of patients and mildly affected individuals are often misdiagnosed.

Typical symptoms of the disease can be one, some or all of the following:

·         Epilepsy: 80% of children with Tuberous Sclerosis will be epileptic, some with many types of seizures. These seizures are often difficult to control.

·         Intellectual Impairment: This does not always occur. Impairment can vary from mild to very severe. Mental retardation occurs in less than 50%.

·         Behavioural Problems: Some children with Tuberous Sclerosis are very overactive and may have sleeping problems. Some may show signs of autism. Some children may develop challenging behaviours.

·         Skin signs: The earliest sign may be a white skin patch, seen even on new born babies. These white patches are usually found on the trunk and limbs. At a later age a characteristic facial rash - adenoma sebaceum is distributed symmetrically  around the nose, chin and cheeks and appears in 90% of cases. At first, the rash is red, pin point spots which later become small lumps. Histologically this lesions are angiofibromas. Shagreen patch is a typical sign of tuberous sclerosis and occurs in 80% of patients. Periungual fibromas have their onset at puberty and occur 50% of cases.

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.

Tuberous Sclerosis is an hereditary disease carried by a dominant gene. It is estimated that Tuberous Sclerosis occurs as a spontaneous mutation in 80% of cases. In this situation, neither parent has Tuberous Sclerosis. Where one parent has Tuberous Sclerosis there is a 1:2 chance that each child will also have the disease.

In 1987 a gene locus was discovered on Chromosome 9 and in 1992 a second locus was found on Chromosome 16. This gene was isolated in 1993.

In 1997 the gene TSC1 on Chromosome 9 was located, with possible leads to blood testing in the future. Many Tuberous Sclerosis sufferers exhibit extreme renal problems and this very serious complication is now being actively researched.