The complex of tuberous sclerosis (TSC, Bourneville’s syndrome) is an autosomal dominant hereditary disease with a genetic and clinical heterogeneity. Dominant manifestations include hamartomas in different organs (most frequently renal angiolipomas and rhabdomyomas in the heart muscle). Dermal manifestations include hypome- lanotic spots, adenoma sebaceum in the face (Pringle’s adenoma) subungual fibromas and shagreen patches. The lesion in the CNS (cortical tubers, subependymal nodules) are the cause of mental retardation and epilepsy. The disease has a variable expressivity, from very severe manifestations with serious mental retardation and organ affections to isolated mild dermal symptoms. The responsible gene was identified in the region of 9q34 (TSC1 gene) and the second gene the mutation of which leads to manifestations of the disease is the so-called TSC2 gene located in the region 16p13.3. The authors present the clinical picture of tuberous sclerosis with a typical variability in the family, where DNA analysis (method SSCP) revealed mutations of the TSC1 gene in exon 13.

        Key words: complex of tuberous sclerosis, clinical variability, DNA, diagnosis, TSC1