Overview
Tuberous sclerosis (TSC) is a rare genetic disorder that causes noncancerous tumors to grow in various parts of the body, such as the skin, brain, eyes, kidneys, heart, and lungs. The symptoms and severity of the disorder vary widely, depending on where the growths develop and how big they get. There is no cure for tuberous sclerosis, but treatments are available to manage symptoms. It can be caused by a random cell division error or inherited from a parent with the condition. Common symptoms include skin changes, seizures, developmental delays, behavior problems, and kidney issues. If you are concerned about your child's development or notice any symptoms, it is recommended to contact your child's healthcare provider.
Understanding the disease
Symptoms
The symptoms of tuberous sclerosis can vary widely and depend on where the growths develop and how big they get. Some common symptoms include:
- Skin changes: Patches of lighter skin, small areas of thickened, smooth or bumpy skin, raised, discolored areas on the forehead, and small soft bumps under or around the nails may occur. Growths on the face that start in childhood and resemble acne are common.
- Seizures: Growths in the brain may be linked to seizures, which can be the first symptom of tuberous sclerosis.
- Problems in thinking, reasoning, and learning: Tuberous sclerosis can result in developmental delays, and mental health conditions such as autism spectrum disorder or ADHD may occur.
- Behavior problems: Hyperactivity, self-injury or aggression, and issues with social and emotional adjustment may be common.
- Kidney problems: Growths on the kidneys are common and may increase with age.
- Heart issues: Growths in the heart are usually largest at birth and shrink as a child gets older.
- Lung problems: Growths in the lungs may cause coughing or breathing difficulties, especially with physical activity or exercise, and occur more frequently in females than males.
- Eye problems: Growths can appear as white patches on the retina, but usually do not interfere with vision.
- Dental changes: Teeth may have pits in the surface, and small growths may appear on the gums, inside of the cheeks, and on the tongue. It is essential to contact a healthcare provider if you notice any symptoms of tuberous sclerosis or have concerns about your child's development.
Risk Factors
The risk factors for developing tuberous sclerosis include:
- Genetics: Tuberous sclerosis is a genetic disorder caused by gene changes in either the TSC1 or TSC2 gene. About two-thirds of cases result from a new gene change, and there is often no family history of the condition.
- Random cell division error: This accounts for approximately two-thirds of cases of tuberous sclerosis.
- Seizures: Growths in the brain may be linked with seizures, which can be the first symptom of tuberous sclerosis.
- Developmental delays and mental health conditions: Tuberous sclerosis can result in developmental delays, as well as mental health conditions such as autism spectrum disorder or ADHD.
- Behavior problems: Common behavior problems include hyperactivity, self-injury, aggression, or issues with social and emotional adjustment.
- Kidney problems: Growths on the kidneys are common in individuals with tuberous sclerosis, and more growths may develop with age.
- Heart issues: Growths in the heart, if present, are usually largest at birth and shrink as the child grows older. It is essential to consult with a healthcare provider if you are concerned about your child's development or notice any symptoms of tuberous sclerosis.
Development
Tuberous sclerosis develops as a result of gene changes or mutations in either the TSC1 or the TSC2 gene. These genes are responsible for controlling cell growth and division. When these genes are mutated, cells can grow and divide uncontrollably, leading to the formation of noncancerous tumors or growths throughout the body. The growths can develop in various organs such as the skin, brain, eyes, kidneys, heart, and lungs, and can cause a range of symptoms, from mild to severe, depending on the size and location of the growths.
Assessment and Diagnosis
Triage
You should see a doctor if you suspect tuberous sclerosis, especially if you notice skin changes, seizures, developmental delays, behavior problems, or other unexplained symptoms. It is crucial to seek medical attention if you observe any symptoms or have concerns about your child's development. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected by tuberous sclerosis.
Diagnosis
To diagnose tuberous sclerosis, a healthcare provider will typically conduct a physical exam and gather information about the patient's symptoms and family history. The provider will look for noncancerous tumors or growths commonly associated with tuberous sclerosis. Blood tests and genetic tests may also be ordered to diagnose the disorder and identify related problems. Consultation with specialists, such as neurologists, cardiologists, ophthalmologists, dermatologists, and nephrologists, may be necessary depending on the symptoms and affected organs.
Management and Treatment
Complications
Potential complications of tuberous sclerosis can include:
- Seizures: Tuberous sclerosis can cause seizures, which may be the first symptom of the disorder.
- Developmental delays: The disorder may result in developmental delays, limiting the ability to think, reason, and learn. Mental health conditions such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD) can also occur.
- Behavior problems: Common behavior problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
- Kidney problems: Growths on the kidneys are common, and more growths may develop with age.
- Heart issues: Growths in the heart, if present, are usually largest at birth and shrink as a child gets older.
- Lung failure: Growths in the lungs can damage lung tissue and lead to collapsed lungs.
- Increased risk of cancerous tumors: Tuberous sclerosis is linked with an increased risk of developing cancerous tumors in the kidneys and brain.
- Vision damage: Growths in the eye can interfere with vision if they block too much of the retina, though this is rare. Please note that there is no cure for tuberous sclerosis, but treatments are available to manage symptoms.
Treatment
Treatments for tuberous sclerosis mainly focus on managing its symptoms. Since there is no cure for the disorder, the goal of treatment is to prevent complications and improve the affected individual's quality of life. Some of the treatments for tuberous sclerosis include:
- Medications: Anti-seizure medications can help control seizures, which are a common symptom of tuberous sclerosis. Other medications may be prescribed to manage specific symptoms, such as skin lesions or kidney problems.
- Surgery: In some cases, surgery may be necessary to remove growths that are causing significant issues, such as those that are pressing on nerves or organs.
- Supportive care: Supportive care involves managing the various symptoms associated with tuberous sclerosis, such as providing physical therapy for mobility issues, assisting with communication and learning difficulties, and addressing behavioral or emotional challenges.
- Lifestyle modifications: Making certain lifestyle changes, such as following a healthy diet, getting regular exercise, and maintaining a consistent sleep schedule, can help improve overall health and well-being for individuals with tuberous sclerosis. It's important to work closely with a healthcare provider to determine the best treatment plan for each individual, as symptoms and severity can vary widely.
Preparing for medical consultation
To prepare for an appointment regarding tuberous sclerosis, you should:
- Make a list of your child's symptoms, their duration, and any information about seizures or birthmarks.
- Gather your child's medical history, including other health problems.
- List all medications, vitamins, herbs, and supplements your child is taking, along with their doses.
- Compile information about your family history, particularly if anyone else in your family has tuberous sclerosis.
- Prepare a list of questions to ask the health care provider, such as:
- What is likely causing my child's symptoms?
- What other types of specialists should my child see?
- Are there any clinical trials that might be helpful for my child?
- How can I help my child cope with this disorder?
- How can I find other families living with tuberous sclerosis? Remember to bring a trusted family member or friend to the appointment for emotional support and to help remember important information discussed during the appointment.