As a mother or father, you pay close attention to every little change in your child's body, right? Sometimes, the smallest thing we notice can be a sign of something bigger. Today we're talking about one such extremely rare condition, but it's important for everyone to know about it. This disease is Fibrodysplasia Ossificans Progressiva, or FOP for short.
What exactly is FOP?
Simply put, this disease is when the soft tissues in our body, such as muscles, ligaments, and tendons, gradually turn into bones. Think about it, our body's muscles are there to be flexible and move. Our bones are there to provide a strong structure and framework. The functions of these two systems are completely different.
But in this rare condition called FOP, this orderly system breaks down. The body starts to turn soft tissue into bone on its own. It's as if a new skeleton is growing inside us, outside our normal skeleton.
As new bones form in this way, movement of various parts of the body gradually becomes difficult, sometimes completely impossible. This makes even everyday tasks like talking and eating a meal a challenge.
This condition usually begins in early childhood. It first starts in the neck and shoulders and gradually spreads to the lower body. As people age, the amount of bone replacing soft tissue increases. However, the rate at which this progresses can vary from person to person.
Why is this happening? What is the reason?
The main cause is a small defect in a gene that tells our body how to grow bones and muscles. In fact, even during healthy development, some soft tissue turns into bone. But because of this genetic defect, the body creates more bone than it needs, when it doesn't need it.
Most of the time, this is not something that is inherited from parents to children. However, it can happen very rarely. Most often, it is a random change in genes (new mutations) that occurs during life.
What are the main symptoms of this disease?
There are two main symptoms that help identify this disease. It is very important to be aware of these.
The first and most obvious sign is visible at birth. The big toes on both feet are shorter than normal and turned inward, that is, towards the other toes. In about 50% of children, the same difference is seen in the big toes on the hands. This is a very important initial clue to suspect this disease.
The second main symptom is the previously mentioned soft tissue turning into bone. This usually begins with the appearance of painful, tumor-like growths on the back, neck, and shoulders. These lumps are also called "flare-ups." These lumps turn into bone over time. These flare-ups can occur repeatedly throughout life.
| Type of sign | Description |
|---|---|
| Birthmark | The big toes on both feet are shorter than normal and turned in towards the other toes. |
| Flare-ups | Painful lumps appear on the body (often on the neck, shoulders, back). These lumps can last for about 6-8 weeks and then turn into bone. |
Causes of flare-ups
Important to note: A minor injury, fall, surgery, or injection (even an anesthetic injection for a tooth extraction) can be a major cause of these painful lumps (flare-ups). Therefore, a person with this condition should be very careful before undergoing any medical treatment. Even a viral infection can aggravate this condition.
During a flare-up, symptoms such as pain, swelling, joint stiffness, malaise, and low-grade fever may occur around the bumps.
What complications can occur due to this condition?
As the body's soft tissues turn into bones, mobility is limited, which can lead to various complications.
- Difficulty breathing: If the chest muscles turn into bones, the lungs cannot fully expand.
- Difficulty eating: If the jaw joint movement is restricted, it becomes difficult to open the mouth and eat. This can lead to nutritional deficiencies.
- Loss of body balance: Difficulty maintaining balance while walking or sitting.
- Difficulty speaking
- Scoliosis
- Frequent infections: Due to lack of movement, there is an increased risk of infections related to the nose, throat, and lungs.
- Risk of heart attack: In some cases, this can also affect heart function.
How to diagnose the disease?
Usually, a doctor suspects this disease when they see these two main symptoms during a physical exam—the difference in the big toe and the lumps on the back and shoulders.
To confirm that this is FOP, a special blood test (genetic test) can be performed to identify the genetic defect that causes the disease.
Very important: FOP can often be mistaken for cancer or other rare conditions. Therefore, if something like a biopsy is done on suspicion, it can be very harmful. Because the injury can be a major cause of the disease to worsen and new bone formation. Therefore, if your child has these symptoms, it is essential to tell the doctor about your suspicion of FOP and see a doctor who has expertise in this area.
Is there a treatment for this?
Unfortunately, there is no cure for this disease yet, and treatment options are limited.
Your doctor may prescribe certain medications, such as corticosteroids, to control the pain and swelling that occurs during flare-ups.
Additionally, to make daily tasks easier, you can obtain assistive devices such as special shoes and braces with the help of an occupational therapist.
Take-Home Message
- FOP is a very rare genetic disease in which soft tissues, including muscles, in the body turn into bone.
- One of the main early signs of this disease is that the big toe is short and turned inward when a child is born.
- The other main symptom that appears later is painful flare-ups on the surface of the body.
- Very important: Minor injuries, falls, injections, and especially biopsies can severely aggravate the disease.
- If you suspect that your child has these symptoms, see a doctor immediately and express your suspicions about FOP.
- Although there is no cure for this disease yet, there are treatments that can help manage symptoms and make life easier.
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