Case Study – Familial Tumoral Calcinosis With Hyperphosphatemia

February 12, 2018 | By | Reply

– Dr. Riya Rathod

Mr X, a 40-year-old male businessman complains of back pain since 3-4 years, with numbness in the wrist and forearm after waking up in the morning.

Chief complaints:

Constant dull aching pain and stiffness in the entire back.

Aggravating factors:

End of the day, walking, long hours of sitting

Relieving Factors:

Hot pack, rest (1-2 days to ease out pain)


  • MRI of spine and shoulder
    • Suggestive of a metabolic syndrome representing a combination of familial tumoral calcinosis and hyperostosis – hyper phosphatemia syndrome.
    • Consistent osteopenia with disc calcification.
    • L4/5 and L5/S1 discs show diffuse posterior bulges.
    • Calcification in the rotator cuff tendon.
  • Bone Densitometry – 1.8 T-Score at the spine.


  • Moderately built man with a flat back.
  • Poor core endurance and weak back muscles.
  • Poor flexibility of the lower spine.
  • Collapsing foot arches.
  • Poor body awareness.

Familial tumoral calcinosis – fgf23 gene mutation:

It is a rare condition with hereditary predisposition where there is calcium deposits in the soft tissue in periarticular location that is around the joints or outside the joint capsule. Most commonly around the hip, shoulder, and elbow.


It is a rare condition with increase in the levels of phosphate in the blood and abnormal deposits of phosphate and calcium in the body tissues.

Patient Education:

Patient asked to continue medical treatment to maintain calcium and phosphorus levels in the body.

Treatment approach:

  • Postural correction: To be able to maintain neutral spine in all positions.
  • Exercises to increase flexibility of the spine.
  • Core strengthening exercises with decompression exercises to reduce the pressure on the disc and stabilize the spine.
  • Strengthening of upper and lower limb muscles. Strengthening of the major muscles of the body to sustain through activities of daily living.
  • Lengthening exercises to decrease the axial loading of the spine and thus causing distraction of the spine.
  • Balance and proprioception exercises to improve body awareness.
  • Exercises to increase cardio-pulmonary endurance to improve the capacity and endurance to sustain through the daily activities.

Patient Speak:

“I had very, very severe back pain due to calcification all over my spine which was unbearable for almost 3-4 years. I could not even stand on my feet for days in the week. I tried physio at home had some relief but again was back to the same pain. That’s when I decided to try my luck at PhysioRehab, though with not much hope. But my pain got relieved in the first few sessions itself to my surprise, I could work for more hours through the day with increased endurance. A special thanks to Dr. Ekta and Dr. Riya who were extremely polite and always smiling, never making me feel stressed about my condition. Thank you PhysioRehab for making me feel lighter once again.”

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Category: Case Studies

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