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Tumoral Calcinosis

Hereditary or secondary disorder marked by progressive deposition of calcium phosphate in periarticular soft tissues due to dysregulated phosphate handling, presenting as painful tumor-like masses near large joints.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Tumoral Calcinosis?

Tumoral calcinosis is characterized by progressive lobulated calcified masses in periarticular soft tissues, most often around the hips, shoulders, elbows, and knees.

The familial hyperphosphatemic form (HFTC) is autosomal recessive, caused by loss-of-function mutations in FGF23, GALNT3, or KLOTHO, leading to inadequate FGF23 signaling, increased phosphate reabsorption, and high 1,25-dihydroxyvitamin D.

Secondary tumoral calcinosis occurs in chronic kidney disease, hyperparathyroidism, and chronic dialysis with elevated calcium-phosphate product.

Symptoms

Painless or painful firm nodular masses near large joints
Skin ulceration with chalky white drainage of calcified material
Restricted joint mobility and nerve compression by mass effect
Recurrent infection of draining sinuses
Dental anomalies and short bone changes in some hereditary cases

Risk Factors

Family history of hyperphosphatemic familial tumoral calcinosis
Consanguinity with autosomal recessive inheritance
Chronic kidney disease stage 5 or end-stage renal disease
Secondary or tertiary hyperparathyroidism with elevated calcium-phosphate product
Excessive vitamin D supplementation in dialysis patients

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Progressive painful periarticular mass with calcification on imaging
  • Recurrent skin breakdown with chalky drainage
  • Functional limitation due to mass effect on joints or nerves
  • Hyperphosphatemia detected on routine testing without obvious cause

Treatment Methods

01
Dietary phosphate restriction and use of non-calcium-containing phosphate binders
02
Avoidance of vitamin D supplementation when 1,25-dihydroxyvitamin D is elevated
03
Acetazolamide or calcimimetics in selected hereditary cases to reduce phosphate reabsorption
04
Surgical excision of symptomatic large masses, ulcerated lesions, or those compressing nerves
05
Long-term endocrine and nephrology follow-up with periodic biochemical and imaging monitoring

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.