People with tumoral calcinosis have a gene mutation that causes their body to make too much phosphorous. Mineral deposits form in soft tissues near your hips, shoulders or other joints, causing tumor-like lumps. Medications and dietary changes can lower blood-phosphorous levels. Surgery can remove large lumps, but they often come back.
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.
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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.
You may better understand this condition by breaking down what each word means:
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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:
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.
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Hyperphosphatemic familiar tumoral calcinosis is the most common type. Less common types include:
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.
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:
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:
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:
An accurate diagnosis is important because other, more serious conditions can cause similar symptoms. These conditions include:
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.
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:
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.
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:
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.
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.
Call your healthcare provider if you experience:
You may want to ask your healthcare provider:
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.
Last reviewed on 08/12/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy