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Review of tumoral calcinosis: A rare clinico-pathological entity.

  • Academic Journal
  • Fathi I; Ibrahim Fathi, Mahmoud Sakr, Department of Surgery, Faculty of Medicine, University of Alexandria, Raml Station, Alexandria 21500, Egypt.
    Sakr M; Ibrahim Fathi, Mahmoud Sakr, Department of Surgery, Faculty of Medicine, University of Alexandria, Raml Station, Alexandria 21500, Egypt.
  • World journal of clinical cases [World J Clin Cases] 2014 Sep 16; Vol. 2 (9), pp. 409-14.
  • English
  • 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.
Additional Information
Publisher: Baishideng Publishing Group Country of Publication: United States NLM ID: 101618806 Publication Model: Print Cited Medium: Print ISSN: 2307-8960 (Print) Linking ISSN: 23078960 NLM ISO Abbreviation: World J Clin Cases Subsets: PubMed not MEDLINE
Publication: 2014-: Pleasanton, CA : Baishideng Publishing Group
Original Publication: Hong Kong, China : Baishideng Publishing Group Co., Limited, [2013]-
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Keywords: Calcification; FGF23; GALNT3; KLOTHO; Phosphate binders; Primary; Secondary; Surgical excision; Tumoral calcinosis
Date Created: 20140919 Date Completed: 20140918 Latest Revision: 20211021