Introduction

Tumoral calcinosis (TC) is a rare inherited medical condition in which calcium and phosphate builds up in the soft tissues that are around joints 1. The body needs phosphate and calcium to build strong bones and teeth. However, when they are in excess, the affected area becomes swollen, firm and lump-like, often giving the appearance of a raised mass under the skin 2.

Despite its name, tumoral calcinosis is not a form of cancer. On scans or to the naked eye the lumps may look like tumours, which is why the condition is sometimes mistaken for something more serious 3. However, TC is benign and so does not spread or become life-threatening.

It’s important to recognise the signs of this condition because the appearance of the lumps can lead to unnecessary concern or medical tests. Why the lumps are painless, they may cause discomfort, swelling or stiffness near the affected joints. Understanding how tumoral calcinosis presents and who it affects helps ensure that people receive an accurate diagnosis, proper care and reassurance that this condition is in fact non-cancerous and manageable 4.

Who Does Tumoral Calcinosis Affect?

Tumoral calcinosis is an autosomal recessive genetic condition, meaning a person can be affected if they inherit the same faulty gene from both parents 4. Usually, parents are carriers who don’t display symptoms. When both parents are carriers, each of their children has a:

1 in 4 chance of not being affected by the disease.

1 in 4 chance of developing tumoral calcinosis

1 in 2 chance of being a carrier but not developing tumoral calcinosis

Any age can be affected by this condition, but it is most commonly seen in children, teenagers and young adults. As it is quite rare, the exact number of affected people is unknown. However, it has been found that more individuals of African or Middle Eastern descent are affected, while both male and females equally have TC5 .

What are the Types of Tumoral Calcinosis?

There are two main types of tumoral calcinosis: inherited (familial) and secondary 6.

The most common inherited form is called hyperphosphatemic familial tumoral calcinosis. If this term is broken down it means:

Hyperphosphatemic: high levels of phosphate in the blood

Familial: Inherited and runs in families

Tumoral: Lump looks like a tumour

Calcinosis: Buildup of calcium in the body’s soft tissues, including muscles and around joints.

Another related condition is called hyperphosphatemia-hyperostosis syndrome. This can cause extra bone growth and non-cancerous bone.

Lastly there is normophosphatemic tumoral calcinosis, which is secondary and usually occurs in people with kidney failure. This may lead to hyperparathyroidism, in which the parathyroid gland becomes overactive and affects the calcium and phosphate balance in the body 7.

Symptoms and Causes

What Causes Tumoral Calcinosis?

Tumoral calcinosis happens when the body has difficulty in controlling calcium and phosphate levels in the blood. This imbalance leads to a build-up of calcium in soft tissues, around the joints. A common misconception is that this condition is caused by an infection or cancer, but this is false.

This occurs due to a change in the genes, particularly the FGF23 gene, which normally helps bone cells to produce a protein called fibroblast growth factor 23 (FGF23) 8. This protein has a role in telling the kidneys how much phosphate to remove from the blood.

When this gene is changed, the protein doesn’t work or gets broken down too quickly. As a result, the kidneys don't receive the signal which is needed to remove phosphate. This leads to the kidneys reabsorbing too much phosphate back into the blood instead of passing it out into urine. Hence, this causes high phosphate levels in the blood and over time the excess phosphate combines with calcium, forming hard lumps 9.

Additionally, some people find that there are changes in other genes such as GALNT3 and KL, which have a role in regulation of FGF23 production. This again causes the kidneys to reabsorb too much phosphate, forming hard lumps.

Signs and Symptoms

Tumoral calcinosis causes hard lumps in various sizes near one or more joints, including:

Hips

Elbows

Shoulders

Feet

Wrists

These lumps may appear during childhood or early adulthood, but can occur in infants or older adults too 2.

The lumps can be single or multiple and tend to grow slowly over the years. Despite them being painless, they do feel hard and can be uncomfortable or tender as they enlarge. In severe cases, the lumps can limit movement or make nearby joints stiff 2.

Diagnosis

An orthopaedic specialist usually diagnoses tumoral calcinosis via physical examination and imaging tests 2. X-rays are typically done and show lump-like deposits with cloudy white areas near the joints. In some cases, CT or MRI scans are used to see the depth of calcium clumps and to rule out any other conditions 10.

Additionally, blood tests can be done to check calcium and phosphate levels . As scans often show diagnosis, biopsy is rarely needed. This is because it may lead to a higher risk of infection but may be used if scans show inconclusive results11.

Summary

Tumoral calcinosis occurs due to increased levels of calcium and phosphate built up in soft tissues that are around joints, forming hard lumps such as elbows. These lumps are non-cancerous and are usually painless and slow-growing. However, over-time they can become more hard and limit movement if size increases.

Most importantly, this condition is treatable and manageable with proper medical care 12. Though, early diagnosis can help to reduce complications and keep symptoms under control 13. Most people do find that they can go on to live active lives!

FAQ

Is tumoral calcinosis cancerous?

No. Despite the word ‘tumor’ in the name it is not cancerous. Though the lumps may look like tumours, they do not spread or become life-threatening.

Who is most likely to be affected by tumoral calcinosis?

Any age can be affected but it is more common in children, teenagers and young adults. In most cases, it is inherited and so runs in families due to changes in certain genes that control phosphate levels in the body.

Can tumoral calcinosis go away on its own?

Most lumps do require treatment. Some may find that with proper management such as controlling phosphate levels or surgical removal, the condition can be well managed.

Can tumoral calcinosis come back after treatment?

Yes, lumps still may continue to grow. Especially if the underlying cause such as high phosphate levels isn’t controlled. Hence why it is important to follow-up with your healthcare provider to monitor growth and prevent complications.

References

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