Tuberous sclerosis complex is a disorder which affects certain internal organs and skin.
Genetic mutations of tumor suppressive genes (TSC1 and TSC2) are the cause of tuberous sclerosis. The mutations result in loss of antitumor properties secondary to production of defective proteins (hamatrin, tuberin), which affects cell proliferation and size in various tissues (nervous system, skin, kidneys, lungs, heart muscle).
The diagnostic clinical criteria of this condition are well known and are based on major and minor criteria.