- Almost everyone with TSC has skin issues. These may include various spots and raised patches on the skin, side of nose and on cheeks, forehead, lower back, and around the nails. The skin problems do not result in serious medical problems; however, they can cause problems with self esteem as the child gets older. The facial angiofibromas usually start developing around the age of 5.
- There may also be white (unpigmented) spots on the skin that can be detected with a special light (Wood’s lamp)--as well as locks of hair that have no pigment.
Characteristic brain issues include cortical brain tubers and subependymal nodules.
- Cortical brain tubers can be found in different parts of the brain and may act as a seizure focus.
- Subependymal nodules occur in 90% of people with TSC and most remain dormant throughout life, but can cause problems if they obstruct the flow of the fluid around the brain.
- Subependymal nodules develop into subependymal giant cell astrocytomas (SEGA) in 6-14% of people with TSC and are one of the leading causes of medical problems and death.
- Cortical brain tubers and subependymal nodules are thought to cause seizures, or affect learning, mood, or behavior.
- Seizures occur in 60-90% of people who have TSC. Young children may have infantile spasms which are clusters of seizures that resemble a startle reflex. Medications can help treat these seizures and help reduce impact on function.
- About 80% of children with TSC have a renal lesion by 10.5 years.
- Kidney growths are common in people with TSC.
- These growths can cause problems with kidney function. They may be life threatening in some cases.
- An increase in blood pressure, back pain, or blood in urine can be a sign of kidney tumor growth.
- Benign tumors (known as rhabdomyomas) that are usually present at birth and do not cause a problem unless they are in a spot that obstructs the flow of blood or causes a problem with the pacemaker. These benign tumors do not grow and may become smaller over time and may not be detectable by ultrasound as an adult.
- Arrhythmias (irregular heartbeats) are usually present early in life and are treatable. Rarely, the irregular heartbeat may persist.
- Tumors may occur in lungs (Lymphangioleimyomatosis (LAM)). Mean age of diagnosis of LAM is 28 years. However, these can occur in teenagers.
- More common in females than males (40% of women have LAM0
- Shortness of breath after mild exercise
- Lung collapse
Benign eye tumors (Hamaratomas):
- Don't usually cause symptoms
- Don't typically cause visual loss or problems
- Gum tumors and dental pits can be extensive in the adult teeth.
Intellectual disability / developmental delay
- Intellectual disability/developmental delay occurs in roughly 50% of individuals with TS.
- Early diagnosis and intervention is key.
Cognitive, behavioral and psychiatric issues
- Attention deficit hyperactivity disorder (ADHD)\
- Behavioral and psychiatric disorders, often part of the autism spectrum disorders (ASD)
- About 25-60% are diagnosed with ASD