Do you sometimes feel like you have a lump or hard spot under the skin near a joint like your elbow, shoulder, or knee? It may not hurt when you press on it, but it can be a little big. It's normal to feel a little scared when you see something like this. But not all of these lumps are dangerous cancers. Today we're going to talk about a condition that shows these symptoms, but is not cancer, and is a little rare but important to know about. That's 'Tumoral Calcinosis' .
What is Tumoral Calcinosis?
Simply put, tumoral calcinosis is a genetic condition . This is when your blood levels of a chemical called phosphate are too high. Phosphate is an electrically charged particle, or ion, that contains the mineral phosphorus. So, in a person with tumoral calcinosis, both phosphorus and calcium accumulate in the body, causing lumps to form under the skin, especially around the joints.
Both phosphorus and calcium are essential for our bodies to build healthy, strong teeth and bones. But when they get too high, non-cancerous (benign) growths, that is, not dangerous, but that look like tumors, start to form in the tissues. This is what we call tumoral calcinosis.
Is there another name for this?
Yes, the full medical name for this condition is 'Hyperphosphatemic Familial Tumoral Calcinosis' (HFTC) . A bit of a long name, isn't it? Some doctors also call it 'Teutschlaender disease'. That's to remember Otto Teutschlaender, a German doctor who studied this disease from the 1930s to the 1950s.
What does this long medical name mean?
Shall we break this name down into parts and understand it? That would be easier.
- Hyperphosphatemic: This means that the phosphate level in the blood is high.
- Familial: This means that this is a condition that runs in families and is hereditary.
- Tumoral: This word is used because these tumor-like growths look like cancerous tumors.
- Calcinosis: This means that calcium is deposited within the tissues of your muscles and musculoskeletal system.
Do you understand the meaning of that long name now?
How exactly does Tumoral Calcinosis affect the body?
These lumps, called tumoral calcinosis , often form under the skin, near the joints . They can develop in more than one joint, but they can also develop in multiple joints. The most common locations are:
- Hip joints
- Elbows
- Shoulders
- Bottom
- Wrist joints
- Spinal cord related
- Jaw area
How common is this condition?
Medical experts aren't sure exactly how many people have this tumoral calcinosis. Because it's a very rare condition , it's most common in people of African descent and the Middle East. It can affect both men and women.
What are the main types of Tumoral Calcinosis?
The most common type of this is Hyperphosphatemic Familial Tumoral Calcinosis, which we discussed earlier. In addition, there are other rare types:
- Hyperphosphatemia-hyperostosis syndrome (HHS): This is a condition that causes excessive bone growth and the development of non-cancerous bone lesions.
- Normophosphatemic tumoral calcinosis: This type is often seen in people with kidney failure. It can cause a condition called hyperparathyroidism, which is an overactive parathyroid gland.
What causes Tumoral Calcinosis?
Tumor calcinosis is a metabolic disorder that is inherited . About a third of people with this condition have a change, or mutation, in their FGF23 gene. The FGF23 gene helps our bone cells make a protein called fibroblast growth factor (FGF) 23. Some people also have the condition because of changes in the GALNT3 and KL genes. These genes control the production of FGF23. People with nomophosphatemic tumor calcinosis have a mutation in the SAMD9 gene.
Normally, the protein `FGF23` tells our kidneys how much phosphate to reabsorb from the blood. But when there is a genetic mutation, this process goes awry. Then the kidneys reabsorb more phosphate than they should. Normally, the kidneys excrete excess phosphate in the urine. But in tumoral calcinosis, this phosphate binds to calcium and forms tumors in the soft tissues.
Who is at risk of developing this condition?
Tumorous calcinosis is an autosomal recessive disease . This is a bit difficult to understand, but in simple terms, for you to develop the disease, you must inherit the gene mutation from both of your parents. Your parents can be carriers of the mutation, but they may not have the disease.
If both parents are carriers, each of their children has the following chances:
- There is a 1 in 4 chance of not having the mutated gene (no risk of developing the disease).
- There is a 1 in 4 chance of developing tumoral calcinosis.
- There is a 1 in 2 chance of being a carrier who does not develop the disease.
What are the symptoms of Tumoral Calcinosis?
This condition causes lumps of varying sizes to form near one or more joints. These lumps often appear in childhood or adolescence . However, they can also develop in infants and older adults. Sometimes, only a few lumps develop in a lifetime. Or, many lumps may develop all at once.
You may have symptoms like these:
- Difficulty moving or bending the affected joint properly.
- Hard, painless lumps (some lumps may be slightly painful to the touch).
- Musculoskeletal pain.
How is Tumoral Calcinosis diagnosed?
An orthopedist is a doctor who specializes in bone and joint problems. He or she will examine you and ask about your symptoms. He or she may then do one or more of the following X-rays to look for these tumors and other bone problems:
- X-ray examination `(X-ray)`
- CT scan
- MRI scan `(MRI)`
What other conditions show similar symptoms to Tumoral Calcinosis?
This is very important. Because it is essential to get a correct diagnosis . The reason is that there are other conditions that show similar symptoms, but are more serious. Some of these conditions are:
- Benign soft tissue tumors and malignant soft tissue tumors
- Calcific myonecrosis (a tumor of calcium deposits in the leg muscles)
- Calcific tendonitis (calcium deposits with tendon inflammation)
- Calcinosis circumscripta (calcium deposits in the skin and tissues of the hands and feet)
- Calcinosis of chronic kidney (renal) failure (calcium deposits in people undergoing dialysis)
- Calcinosis universalis (deposition of calcium salts in the skin, tissues, tendons, and muscles)
- Connective tissue diseases
- Gout
- Myositis ossificans (muscle turning into bone)
- Osteosarcoma and sarcoma (bone cancers)
- Synovial chondromatosis (cartilage nodules in the joints)
See? Even though the symptoms are similar, the cause can be very different. That's why it's important to find out exactly what's going on.
What are the non-surgical treatments?
Your doctor may prescribe phosphate-binding medications to lower the amount of phosphate in your blood. When these phosphate-binding medications are combined with a drug called acetazolamide (commonly used for epilepsy and glaucoma), they can block your body's ability to absorb phosphorus. You may also need to eat a diet low in phosphorus .
What is a low phosphorus diet?
If you have tumoral calcinosis, your doctor may recommend a diet low in phosphorus. Phosphorus is naturally found in meat, fish, and dairy products. Phosphorus is also added to some other foods as a preservative or flavoring.
Try to reduce foods and drinks that are high in phosphorus, such as:
- Beer, colas, iced tea and chocolate drinks.
- Chocolate and caramel varieties.
- Dairy foods (milk, cheese, ice cream, non-Greek yogurts, creamy soups).
- Seafood like oysters and sardines, and internal organs like beef and chicken liver.
- Processed meats (hot dogs, lunch meat, bacon, sausages).
- Products made from oat bran.
It's best to talk to your doctor or nutritionist about this for more information.
What are the surgical treatments?
You may need surgery to remove tumors that are too large to function properly. However, these tumors are more likely to grow back . Your doctor may also take a sample of the tissue removed and perform a biopsy to confirm the diagnosis.
What are the possible complications of Tumoral Calcinosis?
Very rarely, this condition can affect your blood vessels or brain, increasing your risk of serious health problems like heart attack and stroke.
In addition, this condition can also cause the following:
- Corneal calcifications or angioid streaks (red streaks) in the cornea of the eyes.
- Dental problems.
- Excessive bone growth (hyperostosis).
- Inflammation in the long bones (diaphysis) in your legs or arms.
Can Tumoral Calcinosis be prevented?
If you and your partner both have the gene mutation that causes tumoral calcinosis, you can talk to a genetic counselor about ways to reduce the risk of your children inheriting the mutation. Some people choose a procedure called Preimplantation Genetic Diagnosis (PGD) . This involves identifying embryos that do not have the mutation. Your doctor then uses a procedure called In Vitro Fertilization (IVF) to transfer the healthy embryos into the woman's reproductive system. With this procedure, your child will not inherit the gene mutation that causes the disease.
What is the outlook for someone with Tumoral Calcinosis?
Most people with tumoral calcinosis live full, active lives . The condition rarely causes serious health problems. However, you will need to see your doctor regularly to check for recurrences.
When should I see a doctor?
See a doctor if you have these symptoms:
- Decreased range of motion in a joint.
- Joint pain, bone pain, or muscle pain.
- The appearance of a tumor or lump under the skin.
What should I ask my doctor?
You can ask the doctor questions like these:
- Why did I develop tumoral calcinosis?
- What is the best treatment for me?
- Do I need surgery?
- What kinds of foods should I cut down on?
- Should I be concerned about complications?
- Should the rest of my family undergo genetic testing?
Can Tumoral Calcinosis be Cancer?
Despite the word "tumoral" in the name, tumors that develop due to tumoral calcinosis are not actually cancerous . There is no risk of these tumors becoming malignant. So don't worry about it.
It's true that tumors under the skin due to tumoral calcinosis can be a little uncomfortable and scary. But for most people, these tumors don't cause any major problems. Medication can lower the phosphorus level in the blood. Your doctor may also recommend that you see a nutritionist to help you eat a low-phosphorus diet. If you have pain in your joints, bones, or muscles that limits your mobility, tell your doctor. Even though tumors can be removed with surgery, keep in mind that they can come back.
Take-Home Message (Things to Remember)
Okay, so let's recap the most important points we discussed today about Tumoral Calcinosis:
- This is a rare, hereditary condition. Increased levels of phosphate in the blood cause them to combine with calcium to form lumps near the joints.
- These tumors are not cancerous .
- These are often painless, but can interfere with joint movement.
- Treatment includes phosphate-lowering medications, a low-phosphorus diet, and, if necessary, surgery.
- If you see a lump like this, don't panic and seek medical advice. A correct diagnosis is very important.
- Many people live normal, active lives with this condition.
So, if you or someone you know has these symptoms, it's best to see a doctor for advice.
` Tumorous calcinosis, joint cysts, phosphate, calcium, genetic diseases, skin nodules, bone diseases
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