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|Year : 2008 | Volume : 19 | Issue : 6 | Page : 960-963 |
|Tumoral calcinosis with vitamin D deficiency |
Subramanian Kannan, Latha Ravikumar, Shiraam Mahadevan, Mayilvahanan Natarajan, Anjali Satya, Rekha Bhat, Usha Sriram
Association of Clinical Endocrinology Education and Reasearch, Chennai, India
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| Abstract || || |
A 50-year-old woman presented with recurrent calcified mass in the left gluteal region. The clinical, radiological, and biochemical profile confirmed the diagnosis of tumoral calcinosis. She also had associated vitamin D deficiency. The patient underwent surgical removal of the mass to relieve the sciatic nerve compression and was managed with acetazolamide, calcium carbonate, and aluminium hydroxide gel with which she showed significant improvement. The management implications and effect of vitamin D deficiency on phosphate metabolism in the setting of tumoral calcinosis is discussed.
Keywords: Tumoral calcinosis, Vitamin D deficiency, Hyperphosphatemia
|How to cite this article: |
Kannan S, Ravikumar L, Mahadevan S, Natarajan M, Satya A, Bhat R, Sriram U. Tumoral calcinosis with vitamin D deficiency. Saudi J Kidney Dis Transpl 2008;19:960-3
|How to cite this URL: |
Kannan S, Ravikumar L, Mahadevan S, Natarajan M, Satya A, Bhat R, Sriram U. Tumoral calcinosis with vitamin D deficiency. Saudi J Kidney Dis Transpl [serial online] 2008 [cited 2014 Mar 4];19:960-3. Available from: http://www.sjkdt.org/text.asp?2008/19/6/960/43472
| Introduction || || |
Tumoral calcinosis is a heterogeneous disorder of obscure etiology characterized by extensive non-osseous calcification especially in the periarticular soft tissue regions of major joints.  Biochemically, the most common features include high serum phosphorus, normal calcium, and normal parathormone levels in the absence of renal failure. We discuss a patient with hyperphosphatemia and vitamin D deficiency further strengthening the hypothesis that the primary pathology in tumoral calcinosis is tubular absorption of phosphate.
| Case Report || || |
A 50-year-old post menopausal Omani woman presented with hard calcified mass in the left gluteal region associated with severe root pain of 2 months duration. She was operated on twice in the past for similar complaints. There was no history suggestive of renal or gallstones, fractures or deformity of any bones, or use of chronic medications such as steroids, calcium, or bisphosphonates. Her dietary intake of dairy products was estimated to be grossly inadequate, and so was her daily sun exposure. Family history was significant for one of her two brothers being affected by similar complaints.
The blood investigations revealed the following: normal renal and liver functions, normal calcium, high phosphorus, low 25- hydroxy vitamin D 3 levels with normal 1, 25- dihydroxy vitamin D 3 levels. Twenty four hour urinary profile showed markedly reduced phosphate excretion (high tubular reabsorption of phosphate (TRP) > 99%) with normal calcium and creatinine excretion [Table 1]. Roentgenogram of the chest showed calcified deposit in the right scapular region [Figure 1], and that of the hip showed heterogeneously calcified mass in the left gluteal/hip region with no evidence of looser zones [Figure 2]. Bone scan following Tc -MDP administration showed intense up take in the hip region at the site of involvement [Figure 3]. Bone mineral density assessed by DXA scan showed osteoporosis of the spine (T score -3.5) and normal density of the right hip (T score 0.3). With the above clinical profile, a diagnosis of recurrent tumoral calcinosis (probably familial) with vitamin D deficiency was entertained.
The patient was managed with liquid aluminium hydroxide gel, calcium carbonate (500 mg) + vitamin D (250 I.U) thrice daily and acetazolamide 250 mg four times a day. She underwent surgery for removal of the calcified mass mainly to alleviate the pain due to sciatic nerve compression. On follow-up after 3 months, she was clinically stable and pain free.
| Discussion || || |
Tumoral calcinosis is associated with increased calcium phosphorus product and its attendant complications of ectopic calcification. , There is evidence that it may primarily be a consequence of abnormality in the renal tubular handling of phosphorus leading to excessive reabsorption. ,,, It may also be due to abnormal regulation of renal 1- alpha hydroxylase system generating active vitamin D leading to excessive intestinal and renal absorption of phosphate. 
The clinical presentation of tumoral calcinosis is usually with calcified masses in the periarticular regions resulting in compression effect on the adjacent structures causing pain and impaired joint mobility. Occasionally, it may present as extensive subcutaneous calcification and sinuses discharging calcified material from the skin.  Another phenotypic marker described in some cases is an abnormality of dentition, marked by short bulbous roots, pulp stones and radicular dentin deposited in swirls.
The genetic basis of the entity is not clear. However, there is data from affected families that it may have an autosomal dominant inheritance with variable expressivity.  In our case, one of the two brothers was affected implying an autosomal link. Recently, molecular research has incriminated the possible role of GALNT3 gene and FGF-23 in the pathogenesis. The former controls an enzyme needed for Oglycan initiated posttranslational modification of certain proteins and is highly expressed in the kidney and skin and the latter plays an important role in proximal tubular reabsorption of phosphate. However, the exact role of these factors in normal phosphate homeostasis and in the prevention of soft tissue calcification is presently not clear.
Another interesting feature in the index patient is the associated vitamin D deficiency, which was most likely due to lack of supplementation in postmenopausal setting, inadequate dietary intake, and poor sunlight exposure (due to cultural reasons). In general, vitamin D deficiency is associated with low serum phosphorus, low or normal calcium with increased or normal alkaline phosphatase. Hyperphosphatemia in the setting of vitamin D deficiency is rare and may occur due to renal failure, bisphosphonates or heparin use, hypo or pseudohypoparathyroidism, hypomagnesemia or tumoral calcinosis (as in our case). The significantly elevated phosphate levels despite vitamin D deficiency strengthen the hypothesis of primary renal tubular defect.
Phosphate lowering measures are the mainstay of management that includes low phosphorus diet, phosphate binders (aluminium hydroxide gel, calcium carbonate), and acetazolamide. , Calcitonin has also been tried with limited success. Our patient received calcium carbonate plus vitamin D to correct the deficiency and later started on aluminium hydroxide gel as phosphate binding. Surgery was performed primarily to remove the sciatic nerve compression. Regarding her spinal osteoporosis it is planned to cautiously try bisphosphonates on follow up or use teriparatide (parathormone). The latter may have a theoretical advantage of phosphaturic effect in this setting.
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