Overview

Tumoral calcinosis (TC) is a rare and benign condition which mainly affects the soft tissue like the joints. This condition is characterised by calcium phosphate deposits in these joints, in particular larger joints such as shoulders, hips and elbow joints.¹ However, the causes of TC are still uncertain. Although the condition is not life-threatening, it can cause a significant amount of discomfort for patients who have it, depending on the severity of the disease. Symptoms include swelling and masses around the joints, impaired mobility are significant and can stop people from doing ordinary daily things, which can worsen quality of life, especially if the condition is left untreated.

The condition is not understood well but from the few cases that have presented, there is evidence to suggest that it most commonly affects children and young adults up to 20 years old. The condition can be split into two subtypes.

Early diagnosis is important to appropriately deal with the condition. However, this can come with its challenges because of issues like the rarity of the condition and the variable ways in which it presents. People will experience symptoms that are non-specific or symptoms that vary from person to person. These factors make it challenging to diagnose tumoral calcinosis. Both Clinical assessment and radiological imaging are required for most accurate identification of the condition.

Clinical features of tumoral calcinosis and diagnosis

The symptoms of TC can vary between patients but some are common amongst patients with tumoral calcinosis. The main observable symptom is swelling and masses around the joints. These deposits can present themselves as patchy and hard nodular swellings in the soft tissue over different joints around the body. 

Some other common symptoms of tumoral calcinosis include:

• Swelling in soft tissue around large joints
• Tenderness in joint areas
• Issues with mobility of joints

These symptoms will usually be experienced in the larger joint areas where people are normally affected. Often leading to pain in the shoulders, elbow, knee or hip joints. In some cases, these swellings will progressively increase in size. However, the masses themselves are usually painless.

As TC affects the joints, patients will often show difficulty bending the affected joints and overall movement. Calcinosis can further be classified into subtypes dependent on laboratory testing. Serum phosphate levels are tested to identify whether a patient may have hyperphosphatemic or normal phosphatemic types of TC.

The history of the patient will also be considered. As TC usually affects younger people and children, the age of the patient should be considered in the examination. Furthermore, other underlying issues can support diagnosis of tumoral calcinosis, including a history of chronic renal failure and Hyperparathyroidism which are most often associated with secondary tumoral calcinosis.

Radiological approach to diagnosis

The diagnosis of tumoral calcinosis is mainly based on imaging. Radiography allows for a non-invasive method of identifying the calcific deposits. Radiological scans will often show large nodular masses, these are the calcium salt deposits that are felt in the initial clinical examination. This is the calcification in the soft tissues. The radiographic examination will show these masses and calcification around the affected joint.

Radiographs are very important for accurate and definitive diagnosis after TC is suspected upon a clinical examination.²

Examples of imaging used to diagnose TC

• X ray. X Rays are performed usually as the initial and first-line radiological scan to detect the large masses which form as a result of calcium phosphate. These masses can be called calcific masses
• Ultrasound. Sometimes ultrasound is a more readily available imaging technique which allows a medical professional to examine the masses through real-time imaging. It can be particularly useful for analysing the activity of the disease
• CT scan. Ct scans can reveal more intricate details, including information on activity of the disease. This is because a CT scan distinctively shows areas of calcification density. The use of MRI and CT scans can help understand which nearby tissues may be involved in TC³

Differential diagnosis

Because many of these symptoms and findings, such as the presence of masses, are similar to other conditions, sometimes diagnosis can be more challenging. Differential diagnosis is important to ensure that tumoral calcinosis is accurately identified. 

Other conditions may need to be differentiated which may present in a very similar way to TC. Examples can include:

• Osteosarcoma
• Calcific tendonitis 
• Calcinosis universalis

As these conditions can be easily mistaken for tumoral calcinosis, it is important that biochemical test results are also applied alongside radiological scans for an accurate diagnosis. These biochemical test results will include testing for renal function, serum calcium levels and serum phosphorus levels.

Similarly, other diseases like connective tissue disorders should also be ruled out also achieved with biochemical tests.

In cases which may prove more difficult to diagnose based on clinical or radiological scans, biopsies can be performed. However, this is less commonly done because of risk of infection. These lesions are microscopically examined and can lead to a tumoral calcinosis diagnosis.¹

Summary

Tumoral calcinosis is a rare condition which is characterised by the deposition of calcium phosphate in soft tissues like joints. The disease is often linked to genetics and the secondary form is usually associated with other underlying conditions such as chronic kidney disease. It is important that the disease is diagnosed as early as possible to prevent worsening of symptoms and to appropriately treat the condition. Both clinical examination and radiological imaging play a role in diagnosis of TC. This multidisciplinary approach is important for the best and most accurate assessment and diagnosis. Medical professionals should use both clinical results and examination and radiographic imaging to ensure that other similar diseases to TC are ruled out and that the condition is properly diagnosed and classified.