Have you ever noticed that one part of your little one's body, perhaps an arm, leg, or finger, is unusually large compared to the rest of their body? Or have you ever noticed something strange, like a large mole on their skin or a tangled area of blood vessels? It's normal for any parent to feel worried when they see something like this. Today we're talking about a group of rare conditions that can cause these things. It's called PROS, or PIK3CA-Related Overgrowth Spectrum.
Let's understand exactly what PROS and PIK3CA are.
First of all, PROS is not a single disease. It is a spectrum of several different conditions. All of these conditions have one thing in common. That is, some parts of the body become excessively large (overgrowth) or develop into an abnormal shape.
Now let's see why this happens. The main reason for this is a change, that is, a mutation, in the gene called `PIK3CA` in our body.
Simply put, our body is like a big factory. There is a set of instructions that everything in this factory has to be done right. `PIK3CA` is an important gene that gives such instructions. It is the one that tells our cells, "Okay, now you divide," "Now you grow," "Okay, now your time is up, die."
However, if a letter in the instruction book of this `PIK3CA` gene is wrong, that is, if a mutation occurs, the messages that those cells receive are confused. Then some cells divide too quickly, or do not die when they should. That is when we see abnormal overgrowth in the places where those cells are, that is, in places like the skin, blood vessels, bones, fat tissue and the brain .
There is a very important point that you must remember here. PROS is not a disease that is passed on from parent to child. This means that if you have this disease, your child will not develop it, and if one of your children had it, other children will not develop it. This genetic change does not occur in every cell of the child's body, but only in some cells. So do not be unnecessarily afraid of this.
Various medical conditions that come under PROS
Sometimes doctors will directly diagnose a disease with PROS. Other times, they will name a specific medical condition (syndrome) that falls under the PROS umbrella. Some of these are listed in the table below.
| Name of the disease (Syndrome) | Main features and description |
|---|---|
| Fibroadipose hyperplasia | In this condition, excessive growth of fatty tissue, fibrous tissue, or blood vessels causes lump-like growths to form in the limbs or other parts of the body. Over time, these can grow and interfere with walking and movement. |
| CLOVES syndrome | The name is derived from the first letters of the symptoms. C - Congenital (present from birth), L - Lipomatous (related to fat - many children can see something like a fatty lump), O - Overgrowth (excessive growth), V - Vascular malformations (abnormal blood vessels - like birthmarks, spider veins), E - Epidermal nevus (a type of mole that appears on the skin), S - Spinal/Skeletal (problems with the spine or bones - e.g. back pain). |
| Megalencephaly-capillary malformation (MCAP) syndrome | The brain, blood vessels, and facial features develop excessively. These children may have developmental delays and abnormally shaped fingers. |
| Hemihyperplasia-multiple lipomatosis (HHML) syndrome | It often affects the growth of the arms and legs. Slow-growing, painless fatty tumors (lipomas) form under the skin in various parts of the body, especially the back, trunk, limbs, and fingers. |
| Hemimegalencephaly | In this condition, the entire brain or half of the brain becomes larger than normal. These children may experience seizures, paralysis, and developmental delays. |
| Facial infiltrating lipomatosis | A painless swelling or growth on part of the face. This usually occurs on only one side of the head. Sometimes part of the tongue can become enlarged and bones and teeth can be affected. |
What are the treatments for this?
There is no cure for PROS yet. However, there are many ways to manage the condition and its symptoms.
Your doctor will decide the most appropriate treatment for your child. He or she will make these decisions after carefully examining your child's condition and consulting with various specialists (e.g., surgeons, neurologists). Here are some of the main treatment options:
- Surgery: Surgery may be recommended to remove the overgrown tissue, especially if the growth is interfering with your child's ability to walk or perform daily activities, is putting pressure on the brain, or is needed to correct a condition such as scoliosis.
- Medications: Your doctor may prescribe medications to control specific symptoms, such as seizures. Research is also underway on new drugs that target the activity of the PIK3CA gene.
What will my child's future be like?
This is one of the biggest concerns and fears for any parent. PROS is a lifelong condition. Since the symptoms vary greatly from person to person, the child's future can vary accordingly.
This means that some children can live a normal life without major effects. Others, especially if the brain is affected, may experience learning differences and developmental delays.
Additionally, it has been found that some people with PROS have a certain risk of developing cancer, because this same PIK3CA gene mutation is also found in cancer cells in people without PROS.
Don't be unnecessarily afraid of this. The most important thing is to talk openly about this risk with your doctor. Then, you can get the necessary tests done on time and see if there is a risk of such a situation. Your doctor will constantly monitor your child's condition and provide the necessary guidance.
Take-Home Message
- PROS is a group of conditions caused by a mutation in the gene `PIK3CA`. This is not caused by the fault of the parents.
- This is not a hereditary disease. Just because one of your children has it doesn't mean that the other children will also have it.
- Symptoms can vary greatly from child to child. Some may have mild effects, while others may have serious problems.
- Although there is no cure for PROS, symptoms can be managed very well with surgery and medication.
- It is very important to talk openly and regularly with your doctor about any concerns or fears you have about your child's condition, treatment, and future.
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