Clinical Definition

Tuberous sclerosis is a group of two genetic disorders with a spectrum of clinical expressions, including dermatological, neurological, renal and cardiac, and commonly accompanied by epilepsy, autism, developmental delay and skin birthmarks. Mutations in the genes TSC1 or TSC2 are responsible for most cases. Symptoms include patchy red skin or white skin, seizures, pitted dental enamel and rubbery benign tumors on the tongue.  DNA tests are available for both genes, but no specific treatment exists; rather, it is based on symptoms.

In Our Own Words

Tuberous sclerosis (TSC) is a genetic condition, with a variety of possible symptoms. The condition is characterized by the development of benign tumors in multiple organs, including potentially the brain and skin. Adults are at increased risk for certain malignant tumors. Seizures are one of the most common causes of morbidity in people with TSC.

Some individuals are only slightly affected, and the diagnosis is a surprise, while in others, the diagnosis offers one coherent explanation for a variety of prominent symptoms. Mutations in either the TSC1 gene or TSC 2 gene are usually responsible, and those with the diagnosis often also have epilepsy, autism or developmental delay or skin birthmarks. Most cases are believed due to new mutations, not ones passed on by parents.

In addition to the skin, brain and nervous system, the condition may affect the kidneys and the heart, among other organs.  Those affected may have patchy skin, orange-peel skin, seizures, developmental delays and dental issues such as pitted tooth enamel.

DNA testing can detect the genetic mutations, but even if diagnosed, there is no specific treatment. Rather, the focus is on treating the symptoms in each patient. Some affected have intellectual disability but others do not.