Introduction

Tumoral calcinosis, also known as Teutschlaender disease, is a condition whereby a person forms lumps close to the joints. These lumps resemble tumours and are caused by the blood having unusually high levels of phosphorus and calcium.¹ This disease presents as if it is a tumour caused by cancer. Tumoral calcinosis is passed on from parents to their children. However, in the vast majority of patients, it is painless; only a small number of people with tumoral calcinosis ever experience pain or tenderness. This disease is rare, and it is not known how many people are affected by it.

This article will describe how people who are living with tumoral calcinosis are affected by the disease. We will also cover how the disease is treated, with a particular focus on treatments that lower the levels of phosphorus in the blood.

An in-depth look at tumoral calcinosis

Tumoral calcinosis, which is medically referred to as hyperphosphatemic familial tumoral calcinosis (HFTC), is a disease that resembles cancer in its physical manifestation. It is a rare disease that comes about when a person has too much phosphorus in their bloodstream, a condition referred to as hyperphosphatemia, as referenced by the name of the disease. The word “familial” in the name of the disease simply means that the disease runs in families whereby there is a mutation in specific genes. This leads to higher levels of phosphate in the blood. Calcinosis, in the name of the disease, causes a buildup of calcium in the tissues of the body. The genes involved in this disease are GALNT3 and KL. These genes are important for the function of a protein referred to as fibroblast growth factor (FGF23). FGF23 plays a role in controlling how much phosphorus the kidneys keep in the bloodstream or send to the bladder to be urinated.^1–5

As a result, people with tumoral calcinosis will, over time, develop tumour-like growths in the body, affecting soft tissues mostly in periarticular areas of the body (around the joints). This disease mostly affects children. The growth is often painless, but it may get bigger and cause a loss of motion if it gets too close to the joint. The accumulation of phosphate happens in the skin and under the skin, and may begin in infancy, leading to the formation of the growths seen in tumoral calcinosis. The phosphate comes in the form of hydroxyapatite, which is the same material that makes up the enamel of the teeth. Hydroxyapatite is a compound that contains phosphates and calcium. These growths may also contain calcium carbonate.¹ Since these growths look like the tumours that are seen in cancer, the word “tumoral” in the name of the disease makes reference to that. Even though tumoral calcinosis is referred to as HFTC, whereby they can be used interchangeably, there are other types of tumoral calcinosis. These are hyperphosphatemia-hyperostosis syndrome (HHS) and normophosphatemic tumoral calcinosis. In HHS, the bones are affected as they develop lesions and grow more than they should. It is caused by the same genetic mutations as HFTC. In normophosphatemic familial tumoral calcinosis (NFTC), the affected persons have calcium accumulation in the skin and the mucous membranes. NFTC is caused by having a mutation of the SAMD9 gene, but it is not exactly clear how this mutation then leads to the disease.^2-4 Usually, people with kidney problems get affected by NFTC.

Symptoms of tumoral calcinosis

Tumoral calcinosis affects the body in many ways. In this section, some of the clinical manifestations of the disease will be described.

• Hard and firm lumps that may appear under the skin, especially closer to the joints
• The most affected joints are the hips, but other joints such as the elbows and shoulders may also be affected⁵
• In severe cases, the tumour-like growths may then pop out of the skin with hydroxyapatite coming out of them like pus. In such cases, the affected person may also be affected by infections where the growth has torn through the skin
• The eyes may also be affected by the disease
• The teeth, gums and jaws may also be affected by the disease^1,3,5

Phosphate-lowering therapies in the treatment of tumoral calcinosis

In patients with tumoral calcinosis, a diet that contains low levels of phosphates is usually recommended. However, a lot of the everyday food items contain high levels of phosphate. Also, not having a high intake of phosphates through food may not necessarily lower the levels of phosphates in your blood. As such, medications that lower the levels of phosphates in the blood may be required.  Some of these medications include:

• Aluminium hydroxide. This medication prevents phosphates from being transferred to the bloodstream from the gut
• Lanthanum carbonate. This medication also stops the uptake of phosphates from the gut
• Sevelamer also acts by preventing the phosphates that are found in food from being taken into the bloodstream
• Acetazolamide acts by increasing the amount of phosphates that are excreted by the kidneys
• Probenecid is another medication that encourages the kidneys to pass phosphates into the urine

These medications should be taken whenever the patient is having food. It must also be noted that some of these medications have only been tried in very few patients.^1–3

Side effects and disadvantages of phosphate-lowering therapies

Phosphate-lowering medications are not without side effects and disadvantages that may need to be taken into consideration by healthcare providers.¹

• Aluminium hydroxide may cause constipation
• Nausea and abdominal pain could also occur in some patients who are taking phosphate-lowering medication
• Probenecid could make other drugs that are being taken by the patient last longer in the bloodstream, potentially leading to toxicity

Other ways to treat tumoral calcinosis

• Anti-inflammatory medication is given to deal with the inflammation as well as the pain
• Medications that increase the solubility of the compounds that are found in the tumoral calcinosis growths so that they can be passed out in the urine¹
• Physiotherapy to help those patients whose mobility has been affected
• Surgery to remove the tumoral calcinosis growths

FAQs

How is tumoral calcinosis treated?

People with tumoral calcinosis are treated with a variety of medications. These include medications that reduce the amount of phosphorus in the blood or drugs that reduce inflammation.

Is tumoral calcinosis a malignant disease?

No, tumoral calcinosis is a benign condition. 

How can you remove phosphorus from the blood quickly?

Dialysis is one of the methods that can be used to quickly reduce the amount of phosphorus in the blood.

What medications can be used to lower phosphate levels in the blood?

Drugs that can bind to phosphorus are given to people with high phosphorus levels in their blood.

Summary

Tumoral calcinosis is a disease whereby there is a growth of firm lumps in the skin. These lumps look like the tumours that cancer patients would get. The disease is caused by a person having too much phosphorus in the bloodstream. Therefore, the phosphates, together with calcium, then aggregate together to form lumpscloser to the joints in the body. These lumps are benign. In many cases, these growths do not cause any serious problems. But if they grow too big and very close to the bones, they may cause pain and discomfort as well as reduce mobility. In some cases, the lumps can get so big that they tear through the skin and have a discharge of fluid. The rise in phosphate levels is caused by the kidneys not efficiently passing on the phosphates into the urine. As such, it may accumulate in the bloodstream. This is where phosphate-lowering therapies come into play. These are drugs that help to reduce the level of phosphates in the blood. The medications work in different ways to bring about a lower level of phosphates in the blood. Medications such as aluminium hydroxide prevent the phosphates that are in food from getting to the bloodstream. Other medications cause the kidneys to excrete more phosphates.