Background: Tuberous sclerosis complex (TSC) as a syndrome has not previously been reviewed in the Journal of the Norwegian Medical Association. TSC is a genetic disorder characterised by growth of tumours in many organs; most often in the brain, heart, kidneys and skin. The diagnosis is based on revised clinical criteria approved at a consensus conference in 1998.
Material and method: This is a short summary of the current knowledge about tuberous sclerosis complex, based on relevant literature and our own clinical experience; with special emphasis on diagnosis, treatment, and how to follow up the patients and their relatives.
Results and interpretation: TSC is an autosomal dominant inherited syndrome. Mutations in tumour suppressor genes on chromosomes 9( TSC1: ) or 16( TSC2:), give rise to different phenotypic expressions. The common denominator is a tendency towards increased cell growth due to inactivation of the gene products hamartin (chromosome 9) or tuberin (chromosome 16). It is assumed that most cases are caused by new somatic mutations. Sneaking symptoms from affected organs necessitate close surveillance of the patients. Both patients and their relatives are in need of information and guidance, both in clinical and genetic matters. In Norway, a centre of competence within TSC has been established to meet such needs.