Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease. Many TSC patients show evidence of the disorder in the first year of life. However, clinical features can be subtle initially, and many signs and symptoms take years to develop. [from NINDS, NINDS Tuberous Sclerosis Information Page, 2016.3.22].
Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by seizures; mental retardation; distinctive skin lesions; and hamartomas (benign, tumor-like nodules) of the brain, retina, heart, kidneys, lungs, or other tissues or organs. In addition, many affected individuals may have cyst-like areas within certain skeletal regions, particularly the phalanges. Characteristic skin lesions include sharply defined areas of hypopigmentation that may develop during infancy and relatively small reddish nodules that may appear on the cheeks and nose beginning at approximately age four. These reddish lesions eventually enlarge, coalesce, and develop a wart-like appearance (sebaceous adenomas). Additional skin lesions may also develop, including cafe-au-lait spots; fibromas (benign, fibrous nodules) arising around or beneath the nails; or shagreen patches (rough, elevated, "knobby" lesions) on the lower back. [from NORD, Tuberous Sclerosis, 2016.3.17]