Review
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2014; 2(9): 409-414
Published online Sep 16, 2014. doi: 10.12998/wjcc.v2.i9.409
Review of tumoral calcinosis: A rare clinico-pathological entity
Ibrahim Fathi, Mahmoud Sakr
Ibrahim Fathi, Mahmoud Sakr, Department of Surgery, Faculty of Medicine, University of Alexandria, Raml Station, Alexandria 21500, Egypt
Author contributions: Fathi I reviewed the articles dealing with tumoral calcinosis and wrote the manuscript; Sakr M reviewed the articles dealing with tumoral calcinosis and revised the manuscript.
Correspondence to: Mahmoud Sakr, MD, PhD, FACS, Professor of Surgery, Faculty of Medicine, University of Alexandria, Shamblion st., Raml Station, Alexandria 21500, Egypt. mah_sakr@yahoo.com
Telephone: +20-10-07834993 Fax: +20-20-34841189
Received: April 10, 2014
Revised: June 8, 2014
Accepted: June 27, 2014
Published online: September 16, 2014
Processing time: 167 Days and 20 Hours
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: Tumoral calcinosis; Primary; Secondary; Calcification; Surgical excision; FGF23; GALNT3; KLOTHO; Phosphate binders

Core tip: This review of literature on tumoral calcinosis, describes the current understanding of the pathogenesis and classifications of this relatively rare clinico-pathological entity. It discusses the different current diagnostic modalities and treatment options.