Tumoral Calcinosis: Symptoms, Causes, Treatment

What are the symptoms of tumoral calcinosis?

The symptoms of tumoral calcinosis primarily involve the development of calcified masses in soft tissues, usually near joints. These calcifications can cause various issues depending on their size and location. Common symptoms include:

• Painless, firm masses: These are the most characteristic sign of tumoral calcinosis. They often appear near large joints such as the hips, shoulders, elbows, and knees.
• Swelling around the joints: The calcified masses can lead to swelling in the affected area.
• Reduced range of motion: If the masses are large or located near a joint, they can restrict movement and cause stiffness.
• Pain: Though the masses are often painless, pain can occur if they press on nerves, blood vessels, or if the skin over the masses becomes irritated or ulcerated.
• Skin ulceration: In some cases, the skin overlying the masses may break down, leading to ulcers and possible secondary infections.
• Drainage of chalky material: If the skin ulcerates, a white, chalky substance (calcium deposits) may drain from the area.

The symptoms tend to progress slowly over time, and the condition can become more severe if left untreated.

What are the causes of tumoral calcinosis?

Tumoral calcinosis is primarily caused by metabolic disturbances that lead to abnormal calcium and phosphate metabolism, resulting in the formation of calcium deposits in soft tissues. The specific causes of tumoral calcinosis can vary depending on whether the condition is primary (genetic) or secondary (acquired).

Primary (Genetic) Causes:

• Familial Tumoral Calcinosis: This is a rare inherited disorder often caused by mutations in genes involved in phosphate regulation, such as FGF23, GALNT3, or KL. These mutations lead to hyperphosphatemia (high phosphate levels in the blood), which promotes the deposition of calcium in soft tissues.

Secondary (Acquired) Causes:

• Chronic Kidney Disease (CKD): Impaired kidney function can lead to hyperphosphatemia and secondary hyperparathyroidism, both of which can contribute to calcification in soft tissues.
• Hyperparathyroidism: Overactivity of the parathyroid glands causes an imbalance in calcium and phosphate levels, potentially leading to tumoral calcinosis.
• Hypervitaminosis D: Excessive levels of vitamin D can increase calcium absorption from the gut, contributing to higher blood calcium levels and subsequent calcification.
• Hyperphosphatemia: Elevated phosphate levels, due to dietary intake or underlying health conditions, can directly contribute to the development of tumoral calcinosis.

In some cases, the exact cause remains idiopathic, meaning it is not clearly understood. However, the common underlying factor in all cases is an imbalance in calcium and phosphate metabolism.

What is the treatment for tumoral calcinosis?

Treatment for tumoral calcinosis involves a combination of managing underlying causes, reducing calcium and phosphate levels, and alleviating symptoms. For medical management, phosphate binders can be used to decrease phosphate absorption from food, and dietary modifications that limit high-phosphate foods are recommended. Calcium and vitamin D levels are carefully managed, particularly in cases related to chronic kidney disease, and medications that reduce calcium levels or lower phosphate levels may be prescribed.

In some cases, surgical intervention might be necessary. This can involve the removal of calcified deposits if they cause significant symptoms or complications, or reconstructive surgery if there are deformities or functional impairments. Addressing underlying conditions, such as chronic kidney disease or hyperparathyroidism, is also crucial for effective management.

For patients with familial tumoral calcinosis, genetic counseling may be offered to understand the genetic basis and manage the condition. Research into targeted therapies is ongoing, aiming to address specific genetic causes. Symptomatic treatment might include pain management through analgesics or anti-inflammatory medications and physical therapy to maintain mobility. Regular monitoring and follow-up with healthcare providers are essential for managing the condition effectively.