Tumoral Calcinosis

What is tumoral calcinosis?

Tumoral calcinosis is an inherited condition that causes high levels of phosphate in your blood. Phosphate is an electrically charged particle (ion) that contains the mineral phosphorous. When you have tumoral calcinosis, the minerals phosphorous and calcium build up in tissues.

Your body needs phosphorous and calcium to build strong bones and teeth. But when you have an excess of these minerals, they form noncancerous (benign) lumps in tissue that resemble tumors.

What are other names for tumoral calcinosis?

The complete medical term for this condition is hyperphosphatemic familial tumoral calcinosis (HFTC). Healthcare providers may also use the term Teutschlaender disease, which references Otto Teutschlaender, a German doctor who studied the condition from the 1930s to the 1950s.

What does “hyperphosphatemic familiar tumoral calcinosis” mean?

You may better understand this condition by breaking down what each word means:

• Hyperphosphatemic is the medical term for high levels of phosphate.
• Familial indicates that you inherit this condition. It runs in families.
• Tumoral refers to the tumor-like appearance of the lumps.
• Calcinosis refers to the buildup of calcium in tissues within your musculoskeletal system.

What parts of your body does tumoral calcinosis affect?

Lumps from tumoral calcinosis typically form just underneath your skin near joints. You may have several lumps in different joints. From most to least common, tumoral calcinosis most commonly affects your:

• Hips.
• Elbows.
• Shoulders.
• Feet.
• Wrists.
• Spinal cord.
• Jaw.

How common is tumoral calcinosis?

Medical experts aren’t certain how many people have tumoral calcinosis. The condition is rare. It mostly occurs in people who are Black and people of Middle Eastern descent. It affects all sexes equally.

What are the types of tumoral calcinosis?

Hyperphosphatemic familiar tumoral calcinosis is the most common type. Less common types include:

• Hyperphosphatemia-hyperostosis syndrome (HHS), which causes excess bone growth and noncancerous bone lesions.
• Normophosphatemic tumoral calcinosis, which often affects people who have kidney failure. It can lead to hyperparathyroidism, an overactive parathyroid gland.

What causes tumoral calcinosis?

Tumoral calcinosis is an inherited metabolic disorder. An estimated 1 in 3 people with this condition inherit a gene change (mutation) to their FGF23 gene. This gene helps cells in your bones make a protein called fibroblast growth factor (FGF) 23. Some people inherit changes to the GALNT3 and KL genes, which regulate the production of FGF23. People with normophosphatemic tumoral calcinosis inherit a mutated SAMD9 gene.

Typically, the FGF23 protein tells your kidneys how much phosphate to reabsorb from your blood. The gene mutation interferes with this process, causing your kidneys to absorb too much phosphate. Typically, your kidneys get rid of excess phosphate when you pee. When you have tumoral calcinosis, the phosphate binds with calcium to form lumps in soft tissues.

Who is at risk for tumoral calcinosis?

Tumoral calcinosis is an autosomal recessive disease. You only develop the disease if you inherit the same gene mutation from each of your parents. Your parents are carriers of the mutated gene, but they don’t have the disease.

When both parents are carriers, each of their children has a:

• 1 in 4 chance of not getting the mutated gene (no risk of disease).
• 1 in 4 chance of developing tumoral calcinosis.
• 1 in 2 chance of being a carrier who doesn’t develop tumoral calcinosis.

What are the symptoms of tumoral calcinosis?

Tumoral calcinosis causes lumps of different sizes to form near one or more joints. These lumps typically appear during early childhood or early adulthood. But infants and older adults can get them, too. You may develop just a few lumps during your lifetime. Or you suddenly develop multiple lumps.

You may have these symptoms:

• Difficulty moving the affected joint.
• Firm lumps that don’t cause pain (some lumps may be tender to touch).
• Musculoskeletal pain in bones or joints.

How is a tumoral calcinosis diagnosed?

An orthopaedist diagnoses and treats musculoskeletal problems. Your healthcare provider will perform a physical examination and evaluate your symptoms. You may get one or more of these imaging tests to look for tumors or other bone problems:

• X-ray.
• CT scan.
• MRI.

What conditions cause symptoms similar to tumoral calcinosis?

An accurate diagnosis is important because other, more serious conditions can cause similar symptoms. These conditions include:

• Benign soft tissue tumors and malignant soft tissue tumors.
• Calcific myonecrosis (benign calcified mass in leg muscles).
• Calcific tendonitis.
• Calcinosis circumscripta (calcium deposits in the skin and tissue of the hands and feet).
• Calcinosis of chronic kidney (renal) failure (a buildup of calcium deposits in people getting dialysis).
• Calcinosis universalis (a buildup of calcium salts in skin, tissues, tendons and muscles).
• Connective tissue diseases.
• Gout.
• Myositis ossificans.
• Osteosarcoma and sarcoma.
• Synovial chondromatosis.

What are nonsurgical treatments for tumoral calcinosis?

Your healthcare provider may prescribe phosphate-binding medications to lower the amount of phosphate in your blood. Combining phosphate binders with a medication called acetazolamide (typically used to treat seizures and glaucoma) can block your body’s ability to absorb phosphorus. You may also need to eat a low-phosphorus diet.

What is a low-phosphorous diet?

If you have tumoral calcinosis, your healthcare provider may recommend eating a diet that’s low in phosphorous. Meats and dairy products naturally have phosphorous. Other foods and drinks may have phosphorous as a preservative or additive.

Try to reduce your dietary intake of high-phosphorous foods and drinks, such as:

• Beer, colas, iced tea and chocolate drinks.
• Chocolate and caramels.
• Dairy products including milk, cheese, ice cream, non-Greek yogurts and cream-based soups.
• Oysters, sardines and organ meats like beef and chicken liver.
• Processed meats, such as hot dogs, lunchmeat, bacon and sausage.
• Products made with oat bran.

What are surgical treatments for tumoral calcinosis?

You may need surgery to remove large growths that affect joint movement and function. However, the growths often come back. Your provider may request a biopsy of the removed tissue to confirm the diagnosis.

What are the complications of tumoral calcinosis?

In rare instances, the condition affects your blood vessels or brain, increasing your risk for heart attack, strokes and other serious health issues.

The condition can also cause:

• Corneal calcifications or angioid streaks (red streaks) in your eyes.
• Dental problems.
• Excessive bone growth (hyperostosis).
• Inflammation in the long bones in your legs or arms (diaphysis).

Can you prevent tumoral calcinosis?

If you and your partner carry the mutated gene that causes tumoral calcinosis, you can speak to a genetic counselor about ways to lower your chances of passing the mutation to your children. Some people choose to use preimplantation genetic diagnosis (PGD) to identify embryos that don’t carry the mutated gene. Your healthcare provider uses in vitro fertilization (IVF) to place the healthy embryos into the female reproductive system. With these methods, your child won’t get the gene mutation that causes the disease.

What is the outlook for someone with tumoral calcinosis?

Most people with tumoral calcinosis enjoy full, active lives. It’s rare for the condition to cause serious health problems. Still, you’ll need to see your healthcare provider regularly to monitor for recurring growths.

When should I call the doctor?

Call your healthcare provider if you experience:

• Decreased range of motion in a joint.
• Joint pain, bone pain or muscle pain.
• Lump underneath your skin.

What should I ask my provider?

You may want to ask your healthcare provider:

• What caused tumoral calcinosis?
• What’s the best treatment for me?
• Do I need surgery?
• What foods should I avoid?
• Should I look for signs of complications?
• Should my family members get genetic testing?

Can tumoral calcinosis become cancerous?

Despite the tumoral reference, the lumps from tumoral calcinosis aren’t actually tumors. There isn’t a risk of the lumps becoming cancerous (malignant).

A note from Cleveland Clinic

It can be disconcerting to develop lumps under your skin from tumoral calcinosis. For many people, these lumps don’t cause problems. Medications can lower the amount of phosphorous in your blood. Your healthcare provider may recommend seeing a dietitian who can help you consume a low-phosphorous diet. You should talk to your provider if you have limited range of motion due to pain in your joints, bones or muscles. Surgery can remove the lumps, but they often come back.