Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
A growing body of evidence points to extraosseous calcification (calcification occurring in nonosseous tissues) as a major cause of morbidity and mortality in humans. The term familial tumoral calcinosis encompasses a number of rare recessive diseases, often associated with increased reabsorption of phosphate through the renal proximal tubule, which manifests with periarticular or acral calcium deposition. Recently, the molecular pathogenesis of this group of disorders has been elucidated, leading to the identification of several proteins playing pivotal roles in the regulation of extraosseous calcification. This report reviews these advances as well as the potential implications of these discoveries for the management of acquired conditions associated with abnormal calcification.
Sprecher
Eli
E
Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, Faculty of Medicine and Rappaport Institute for Research in the Medical Sciences, Technion, Israel. e_sprecher@rambam.health.gov.il
D001327:Autoimmune Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002874:Chromosome Mapping; D006801:Humans; D010710:Phosphates / Q000097:blood* / Q000276:immunology* / Q000378:metabolism; D012871:Skin Diseases / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy
D010710:Phosphates