Tuberous sclerosis

Tuberous sclerosis is a rare genetic disease where numerous small benign tumors grow throughout the body. In many cases, the tumors cause no symptoms or the symptoms are so mild as to not cause the patient any impairment. However, on occasion, the tumors grow next to a blood vessel, a duct, or in the brain and put pressure on them. This can cut off blood flow, reduce flow through a small duct, or cause neurological symptoms. In such cases, the tumors have to be surgically removed.
The disease is difficult to diagnose, a classic zebra diagnosis. Most of the symptoms of this disease, including the more serious ones, are common with other disorders. Moreover, the disease is very rare. Like Lupus it can present with any of a number of symptoms, none of which is specific or unique to the disorder. It can usually only be diagnosed by noting the tumors on a MRI or CT Scan.
Luckily, the disease is rarely fatal and is usually treated easily. However, it cannot be cured and treatment must focus on existing symptoms. Patients require ongoing medical care.
Tuberous sclerosis at NIH
Tuberous sclerosis at Wikipedia
Tuberous sclerosis at Mayo Clinic
Category:Genetics