Tuberous sclerosis – or “tuberous sclerosis complex,” hereafter referred to as “TSC” – is a rare genetic disease that causes the growth of benign (non-cancerous) tumors on the brain, eyes, kidneys, heart, skin, and lungs; and also affects the central nervous system. TSC is usually characterized by episodes of seizures and mental retardation. About one in 6000 people is affected with TSC. Some cases of TSC are severe while some are so mild they go undiagnosed. The disease affects both sexes and all ethnic races.

TSC is a genetic disorder. Every child born to someone with TSC has a 50 percent chance of being affected with TSC. However, in some people, the mutation takes place spontaneously; that is, neither the father nor the mother carries the mutated gene for TSC, but the child develops it anyway. The reason for this spontaneous mutation is unknown.

Symptoms of individuals with tuberous sclerosis can differ depending on the location affected.

Brain: Brain tumors found in patients who suffer from tuberous sclerosis can lead to vomiting, nausea, headaches, aggression, obsessive-compulsive behaviors, and learning disabilities. In 60 to 90 percent of individuals affected by the disorder, they can also result in seizures.

Lungs: Lung tumors associated with TSC are more common in females than they are in males, and their onset typically occurs in the early thirties. Symptoms often include shortness of breath and coughing. These tumors can be very serious and may require a lung transplant.

Kidneys: Individuals with tuberous sclerosis can develop a number of different lesions on the kidney, the most common being benign angiomyolipomas. Between 70 and 80 percent of adults and older children with TSC have benign angiomyolipomas that can cause severe pain.

Skin: The most clearly visible symptoms of TSC are ones involving the skin. The manifestation of TSC on the skin can include light or dimpled patches of varying sizes, growths around the fingernails and toenails, and small facial bumps.

Heart: Heart tumors resulting from tuberous sclerosis are typically not accompanied by visible symptoms, but in newborns may occasionally lead to heart failure. About fifty percent of individuals affected by TSC have heart tumors.

As TSC is a multisystem disease, formal diagnosis may be made by any of a number of doctors, including a neurologist, ophthalmologist, dermatologist, and/or nephrologists, mainly depending on the symptoms exhibited.

TSC is suspected if a newborn has a condition called “cardiac rhabdomyomas” when he or she is born or if the newborn exhibits “infant spasms,” which are similar to seizures.

There could be “hypopigmentation,” which is the development of white spots on the skin that glow under special light. In addition, a child may also develop facial rashes, similar to pimples, called “facial angiofibromas.” Children with TSC may also exhibit benign growth of tissue under or around the nails, benign tumors in the eyes, kidney, lungs, skin, brain, and tongue, or mental disabilities.

There is no cure for TSC, but treatment helps to minimize and manage the symptoms of TSC. Treatment is specialized for each patient based on the presented symptoms.

A generic drug, “everolimus,” is approved by the FDA to treat benign tumors. Antiepileptic drugs are prescribed for seizures.

Occupational therapy can teach and help TSC patients with developmental delays to handle everyday tasks effectively, and educational therapy can help a child with mental-disability symptoms keep up with school.

Furthermore, counseling from a psychotherapist can help a child with TSC cope with the ramifications of the disease.

If tumor development affects the normal functioning of an organ, then the tumor has to be removed surgically, and dermabrasion and/or laser therapy can improve appearance of skin lesions

Prognosis depends on the severity of the disease. Those with severe TSC suffer from multisystem disorders and can have serious complications. Tumors of the kidney, eye, and brain may result in serious problems that sometimes prove fatal. Fortunately, with early medical intervention, those with mild TSC can expect to live a normal life with a normal life expectancy.

Conclusion

One of the challenges of TSC is that it is impossible to predict how the disease will unfold. Parents should know that TSC is not their fault, nor was there anything they could have done differently. Love and care go a long way toward helping children with TSC. Parents should take steps to learn as much as they can about TSC, and work together with their doctors to make the child’s life the best it can be.