Review of tumoral calcinosis: A rare clinico-pathological entity - PubMed (original) (raw)

Review

Review of tumoral calcinosis: A rare clinico-pathological entity

Ibrahim Fathi et al. World J Clin Cases. 2014.

Abstract

Tumoral calcinosis (TC) has long been a controversial clinico-pathological entity. Its pathogenesis and genetic background have been gradually unravelled since its first description in 1943. According to the presence or absence of an underlying calcifying disease process, TC has been divided into primary and secondary varieties. Two subtypes of the primary variety exist; a hyper-phosphatemic type with familial basis represented by mutations in GalNAc transferase 3 gene (GALNT3), KLOTHO or Fibroblast growth factor 23 (FGF23) genes, and a normo-phosphatemic type with growing evidence of underlying familial base represented by mutation in SAMD9 gene. The secondary variety is mainly associated with chronic renal failure and the resulting secondary or tertiary hyperparathyroidism. Diagnosis of TC relies on typical radiographic features (on plain radiographs and computed tomography) and the biochemical profile. Magnetic resonance imaging can be done in difficult cases, and scintigraphy reflects the disease activity. Treatment is mainly surgical for the primary variety; however, a stage-oriented conservative approach using phosphate binders, phosphate restricted diets and acetazolamide should be considered before the surgical approach is pursued due to the high rate of recurrences and complications after surgical intervention. Medical treatment is the mainstay for treatment of the secondary variety, with failure warranting subtotal or total parathyroidectomy. Surgical intervention in these patients should be kept as a last resort.

Keywords: Calcification; FGF23; GALNT3; KLOTHO; Phosphate binders; Primary; Secondary; Surgical excision; Tumoral calcinosis.

PubMed Disclaimer

Figures

Figure 1

Figure 1

Schematic diagram showing pathogenesis of different types of tumoral calcinosis. HPTC: Hyperphosphatemic tumoral calcinosis; NPTC: Normo-phosphatemic TC; CRF: Chronic renal failure; GALNT3: GalNAc transferase 3 gene; FGF23: Fibroblast growth factor 23.

Figure 2

Figure 2

Schematic diagram showing the diagnostic and treatment approach for tumoral calcinosis. TC: Tumoral calcinosis.

Similar articles

Cited by

References

    1. McClatchie S, Bremner AD. Tumoral calcinosis--an unrecognized disease. Br Med J. 1969;1:153–155. - PMC - PubMed
    1. Lafferty FW, Reynolds ES, Pearson OH. Tumoral calcinosis: a metabolic disease of obscure etiology. Am J Med. 1965;38:105–118. - PubMed
    1. Inclan A, Leon PP, Camejo M. Tumoral calcinosis. J Am Med Ass. 1943;121:490–495.
    1. Slavin G, Klenerman L, Darby A, Bansal S. Tumoral calcinosis in England. Br Med J. 1973;1:147–149. - PMC - PubMed
    1. Durant DM, Riley LH, Burger PC, McCarthy EF. Tumoral calcinosis of the spine: a study of 21 cases. Spine (Phila Pa 1976) 2001;26:1673–1679. - PubMed

Publication types

LinkOut - more resources