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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2008  |  Volume : 19  |  Issue : 6  |  Page : 960-963
Tumoral calcinosis with vitamin D deficiency


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 2019 Apr 26];19:960-3. Available from: http://www.sjkdt.org/text.asp?2008/19/6/960/43472

   Introduction Top


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. [1] 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 Top


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 Top


Tumoral calcinosis is associated with in­creased calcium phosphorus product and its attendant complications of ectopic calcifica­tion. [1],[2] There is evidence that it may primarily be a consequence of abnormality in the renal tubular handling of phosphorus leading to excessive reabsorption. [3],[4],[5],[6] 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. [7]

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. [10] 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. [4] 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. [5],[6] 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.

 
   References Top

1.Bringhurst RF, Leder BZ: Regulation of calcium and phosphate homeostasis. In De Groot LJ, Hameson LJ (eds): Endocrinology Elsevier Philadelphia 2006.  Back to cited text no. 1    
2.Drezner MK: Diseases of abnormal phosphate metabolism. In Becker KL (eds): Principles and Practice of Endocrinology and Metabolism. Philadelphia, Lippincott Williams & Wilkins 2001.  Back to cited text no. 2    
3.Bijvoet OLM: The renal phosphate threshold: its evaluation and application in different clinical conditions. In de Graeff J, Leynse B (eds): Water and Electrolyte Metabolism II. Amsterdam, Elsevier, 1974.  Back to cited text no. 3    
4.Lyles KW, Burkes EJ, Ellis GJ, et al. Genetic transmission of tumoral calcinosis: Autosomal dominant, with variable clinical expressivity. J Clin Endocrinol Metab 1985;60(6):1093-6.  Back to cited text no. 4    
5.Mozaffanan G, Lafferty FW, Pearson OH. Treatment of tumoral calcinosis with phos­phorus deprivation. Ann Intern Med 1972;77 (5):741-5.  Back to cited text no. 5    
6.Tezelman S, Siperstein AE, Duh QV, et al. Tumoral calcinosis: controversies in the etio­logy and alternative therapies in the treatment. Arch Surg 1993;128:737.  Back to cited text no. 6    
7.Zerwekh JE, Sanders LA, Townsend J, Pak CY. Tumoral calcinosis: Evidence of con­current defects in renal tubular phosphorus transport and in 1 alpha, 25 dihydroxy­cholecalciferol synthesis. Calcif Tissue Int 1980;32(1):1-6.  Back to cited text no. 7    
8.Topaz O, Shurman DI. Bergminosis. J Clin Endocrinol Metab 2005;90(4):2424.  Back to cited text no. 8    
9.Shriraam M, Bhansali A, Velayutham P. Vitamin D deficiency masquerading as pseudo­hypoparathyroidism type 2. J Assoc Physicians India 2003;51:619-20.  Back to cited text no. 9    
10.Kumaran MS, Bhadada SK, Bhansali A, Shriraam M, Kumar B. Tumoral calcinosis. Report of 2 cases. Indian J Pediatr 2004;71 (12):e74-6.  Back to cited text no. 10    

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Subramanian Kannan
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    Figures

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    Tables

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