Are you worried about your little one's white spots? Or are you worried about your child having frequent fits? The cause of these symptoms could be a rare condition. Today we are going to talk about one such rare but manageable condition. That is tuberous sclerosis.
Simply put, what is tuberous sclerosis?
Tuberous Sclerosis Complex (TSC) is a rare genetic condition that causes noncancerous tumors to develop in various parts of the body, especially in organs such as the brain, skin, kidneys, heart, and lungs. It is important to remember that this is not cancer .
The way this disease affects each person varies greatly. Some people have very few symptoms and live a normal life. But for some people, this condition can be more severe. Therefore, serious complications can occur.
This disease develops gradually over time. While some symptoms may appear early in life, others may take years to appear. Therefore, it is very important for a person with this condition to remain under the supervision of a doctor throughout their life.
Who is most affected by this disease?
This is a congenital condition. Most often, a child is diagnosed with this disease when they are about 7 months old. However, it can take years for the disease to be diagnosed in those who have few symptoms. Anyone can develop this disease, regardless of gender, race, or religion. It is estimated that about one million people worldwide have this disease.
What are the symptoms of tuberous sclerosis?
Symptoms often depend on the organ in which the lump is located. Let's divide these symptoms into three main categories.
1. Brain-related symptoms
2. Skin-related symptoms
3. Symptoms related to other organs of the body
1. Brain-related symptoms
The most common tumors in this disease are in the brain. Although these are not cancerous, they can interfere with brain function.
- Seizures: This is the most common and dangerous symptom. There are many different types of seizures that can occur.
- Brain tumors: Tumors (Subependymal giant cell astrocytoma - SEGA) can occur in the ventricles of the brain. If these become large, fluid can accumulate in the brain, causing a condition called hydrocephalus.
- Developmental delays and intellectual disabilities: Not everyone has these, but some children experience learning disabilities and speech delays.
- Behavioral problems: Conditions such as autism spectrum disorder or attention deficit hyperactivity disorder (ADHD) can occur together with this disease.
2. Skin-related symptoms
The disease is often first diagnosed through skin symptoms. About 90% of people with the disease will experience one or more of the following symptoms:
| Skin feature | Description |
|---|---|
| Ash leaf spots | White spots on the skin due to a lack of melanin. These are sometimes not clearly visible in people with fair skin. They glow under special ultraviolet (UV) light. |
| Facial fibromas | Small red bumps that appear on the face, especially on the sides of the nose and cheeks. These can grow together and look like a large rash. |
| Shagreen patches | These are spots that form when fibrous tissue accumulates under the skin, and are thicker than the skin and look like orange peel. They are most commonly seen on the lower back. |
| Fingernail and toenail fibromas | Small bumps that develop around or under the nails on the hands and feet. These usually begin to appear during puberty. |
| Confetti marks | Very small, dot-like white spots. They get their name because they look like confetti. |
3. Characteristics related to other organs of the body
- Kidney problems: Kidney stones or fluid-filled cysts can develop in the kidneys. This can cause kidney failure, back or pelvic pain, and blood in the urine. Rarely, kidney failure or kidney cancer (renal cell carcinoma) can occur.
- Cardiac rhabdomyomas: These are most commonly seen in young children. They usually shrink as the child grows. However, some large tumors can block blood flow to the heart.
- Eye problems: Although tumors can form in the retina of the eye, vision problems are very rare.
- Changes in the mouth: You may notice things like small bumps on the gums or enamel pitting on the teeth.
What causes tuberous sclerosis?
Simply put, this is caused by a change (mutation) in genes. There are proteins in our body that control the growth and division of cells. In this disease, there is a defect in the genes that instruct them to produce these proteins (called TSC1 or TSC2 genes). Then the cells grow uncontrollably and form lumps.
There are two ways this genetic defect can occur:
1. Sporadic: Most of the time (about two-thirds), this genetic defect is a new occurrence. That is, neither the mother nor the father has the disease. This genetic defect occurs by chance after the child is conceived.
2. Inherited: In about one-third of cases, a child inherits the disease from a parent who has the disease.
How to diagnose the disease?
A doctor diagnoses this disease by examining the symptoms. These symptoms are divided into two categories: "major features" and "minor features."
To definitively confirm the disease, there must be two or more major symptoms , or one major symptom and two or more minor symptoms .
Sometimes, because symptoms develop over time, the disease may initially be classified as "possible TSC."
Some of the tests used to diagnose the disease are:
- For the brain: MRI or CT scan of the brain, EEG test to check for seizures.
- For the skin: Skin examination, especially Wood's lamp examination to clearly identify white spots.
- For the kidneys: Abdominal ultrasound or MRI scan.
- For the heart: Echocardiogram.
- Genetic testing: A blood sample can confirm whether there is a defect in the TSC1 or TSC2 genes.
Your doctor will decide what tests are necessary based on your symptoms.
What are the treatments for this?
Tuberous sclerosis cannot be cured completely. However, there are effective treatments to control and manage the symptoms. Treatment depends on the nature of the symptoms.
- Medications:
- To control seizures: There are different types of medications for seizures.
- To shrink tumors: A class of drugs called mTOR inhibitors can control the growth of tumors in the brain, kidneys, and other places and shrink them.
- Surgery: Sometimes, large tumors that are damaging organs may need to be surgically removed. It is especially important to remove tumors that are blocking the flow of fluid in the brain.
- Dermatology treatments: Some people may be embarrassed by the appearance of facial and skin bumps. Treatments such as laser skin resurfacing and dermabrasion can reduce their appearance.
- Other treatments: Treatments such as speech therapy and occupational therapy are also very helpful for children with developmental delays.
What can you expect while living with this disease?
Many people with this disease need to have scans like MRIs at least once every 1-2 years, especially during childhood, to monitor the growth of the tumors.
The impact of the disease varies greatly from person to person.
- People with mild symptoms: Symptoms are very mild. They may need to take some medication. But they can live a normal life without major disruptions to their lives.
- Those with moderate impact: Although symptoms cause some disruption, they can be managed well with treatment and regular medical supervision.
- Severely affected: These people may have severe seizures, intellectual disabilities, etc. They may find it difficult to live alone and may require constant medical care.
When should I see a doctor?
If you or your child has TSC, it is important to see a doctor at regular intervals throughout your life. This can help detect and treat any new problems early.
When should you go to the Emergency Treatment Unit (ETU)?
A seizure lasting more than 5 minutes (fit) or multiple seizures in a row (status epilepticus) is a medical emergency. In such cases, the patient should be taken to a hospital's Emergency Treatment Unit (ETU) immediately.
Additionally, if you develop symptoms that your doctor has told you to be especially careful of (e.g., severe headache, kidney pain), seek medical advice immediately.
Take-Home Message
- Tuberous sclerosis is a genetic disease, but in most cases it is not inherited.
- The lumps that occur in this disease are not cancerous.
- Symptoms vary greatly from person to person. Skin rashes and seizures are the most common symptoms.
- Although this disease cannot be completely cured, there are effective treatments that can help control symptoms and lead a good life.
- It is very important to see a doctor on time for checkups and take your medications as prescribed.
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