Tumoral calcinosis

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Obesity, Sleep & Internal medicine
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Tumoral calcinosis
Radiograph showing tumoral calcinosis
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Painless, firm masses near joints
Complications	Joint pain, ulceration
Onset	Usually in adolescence or early adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation, metabolic disorder
Risks	Hyperphosphatemia, renal failure
Diagnosis	Radiography, biopsy
Differential diagnosis	Gout, pseudogout, calcific tendinitis
Prevention	N/A
Treatment	Surgical excision, phosphate binders
Medication	Phosphate binders, acetazolamide
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Oblique radiograph of a hand with tumoral calcinosis

Image of tumoral calcinosis

Tumoral calcinosis is a rare medical condition characterized by the presence of calcified masses in the soft tissues, typically around the joints. These masses are often large and can cause discomfort or functional impairment depending on their location.

Presentation

Tumoral calcinosis most commonly affects the hip, elbow, shoulder, and knee joints. The condition is often identified through radiography, where the calcified masses are visible as dense, lobulated structures. Patients may present with swelling, pain, or reduced range of motion in the affected area.

Pathophysiology

The exact cause of tumoral calcinosis is not well understood, but it is believed to involve disturbances in calcium and phosphate metabolism. There are both hereditary and sporadic forms of the condition. The hereditary form is often associated with mutations in genes involved in phosphate regulation, such as the FGF23 gene.

Diagnosis

Diagnosis of tumoral calcinosis is primarily based on clinical examination and imaging studies. Radiographs are typically used to identify the characteristic calcified masses. In some cases, a biopsy may be performed to rule out other conditions such as malignancy.

Treatment

Treatment options for tumoral calcinosis vary depending on the severity and symptoms. Conservative management may include pain relief and physical therapy. In cases where the masses cause significant discomfort or functional impairment, surgical removal may be considered. Additionally, addressing any underlying metabolic abnormalities is crucial.

Prognosis

The prognosis for individuals with tumoral calcinosis varies. Some patients may experience recurrent episodes, while others may have a single occurrence. The condition can be managed effectively with appropriate treatment, although complete resolution of symptoms is not always possible.

See also

• Calcinosis
• Hyperphosphatemia
• Metabolic bone disease