Tuberous sclerosis complex

[Gregory]

Tuberous sclerosis complex is a hereditary disorder that causes abnormal growths in the brain, changes in the skin, and sometimes tumors in vital organs, such as the heart, kidneys, and lungs.

Tuberous sclerosis complex is caused by mutations in a gene.
Children may have abnormal skin growths, seizures, delayed development, learning disorders, or behavioral problems and may be intellectually impaired or autistic.
Life expectancy is usually unaffected.
Because the disorder is lifelong and new problems can develop, people must be monitored for their entire life.
The diagnosis is based on established criteria, symptoms, imaging tests, and sometimes genetic tests.
Treatment is focused on relieving symptoms.

Tuberous sclerosis complex is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous).
In tuberous sclerosis complex, tumors or other abnormal growths develop in several organs, such as the brain, heart, lungs, kidneys, eyes, and skin. The tumors are usually noncancerous (benign). The disorder is named for the typical long and narrow tumors in the brain, which resemble roots or tubers.
Tuberous sclerosis complex is usually present at birth, but symptoms may be subtle or take time to develop, making the disorder difficult to recognize early.
In most cases, the disorder results from mutations in one of two genes. If either parent has the disorder, children have a 50% chance of having it. However, tuberous sclerosis complex often results from spontaneous—new (not inherited)—mutations in the gene, rather than an inherited abnormal gene. This disorder occurs in 1 in 6,000 children.