Tuberous Sclerosis Complex (TSC)

It is a genetic disorder that causes benign tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. Its incidence has recently been estimated to be 1 in 6,000 live births. It occurs in both sexes and in all races and ethnic groups. Because TSC is a genetic disorder, it is not contagious. It is the result of a genetic mutation over which a parent has no control. It is often first recognized in children who have two neurological symptoms—epileptic seizures and/or varying degrees of mental handicap. However, the clinical symptoms of TSC vary greatly and may often not appear until later in life. There are presently no cures and there is no way to predict how severely or mildly an individual may be affected by TSC. Some of the symptoms of TSC include facial angiofibromas (raised, red papules on the face, mainly on the sides of the nose), shagreen patches (patches of normal colored skin on the trunk that have a firmer texture than the surrounding normal skin), fibromas around the nail folds, and “ash-leaf” hypo pigmentation.

• Rapamycin has been recommended in the treatment.
• The goals of treatment for patients with TSC are the same as for all patients with a multisystem chronic disease: providing the best possible quality of life with the fewest complications from the underlying disease process, fewest adverse treatment effects, and fewest medications.
• Ketogenic diet

Angiofibromas require removal with radiofrequency cautery or better still a fractional carbon dioxide laser.