Non-neurological aspects of tuberous sclerosis

Tuberous sclerosis is an autosomal dominantly inherited disease which is caused by a mutation of TSC1 or TSC2. The clinical phenotype of TSC1 and TSC2 is nearly identical. The protein complex of TSC1 and TSC2 functions through a rapamycin sensitive signalling cascade and controls e.g. cell proliferation. Rapamycin is already being used in transplantation medicine. Several phase II studies are currently performed to prove efficacy of rapamycin in patients with tuberous sclerosis. Clinically patients with tuberous sclerosis suffer often from the formation of multiple benign tumors in several organ systems. From the third year of live on patients may develop facial angiofibromas, during puberty angiofibromas of the nails may grow. The growth of multiple renal angiomyolipomas can cause bleeding, hypertonus or renal insufficiency during adulthood. The hypopigmented macules of the skin usually do not cause problems, but are a criterion of tuberous sclerosis that is common in early childhood. The pulmonal leiolymphangiomyomatosis is a manifestation of tuberous sclerosis that only affects females with tuberous sclerosis. It may lead to respiratory insuffiniency due to structural changes and to pneumothorax. The highest prevalence of cardial rhabdomyoma is at birth. The rhabdomyoma regress during childhood but they my regrow during puberty. Because of the involvement of many different organ systems and the possiblility of severe complications, care for patients with tuberous sclerosis should be performed in an interdisciplinary way.