From Variome to Phenome: Pathogenesis, Diagnosis and Management of Ectopic Mineralization Disorders

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2015 Aug 6

PMID 26244149

Citations 18

Authors

Eva Yg De Vilder

Olivier M Vanakker

Affiliations

Soon will be listed here.

Abstract

Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge (variome) to the phenotype (phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73 (NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.

Citing Articles

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria.

Al Abdulrahman B, Eed H, Kurdy R, Alwadi Y, Alcheikh S Clin Case Rep. 2024; 12(9):e9287.

PMID: 39224443 PMC: 11366685. DOI: 10.1002/ccr3.9287.

Ectopic Calcification: What Do We Know and What Is the Way Forward?.

Snijders B, Peters M, Koek H J Clin Med. 2023; 12(11).

PMID: 37297880 PMC: 10253322. DOI: 10.3390/jcm12113687.

Zebrafish Models to Study Ectopic Calcification and Calcium-Associated Pathologies.

Santos J, Laize V, Gavaia P, Conceicao N, Cancela M Int J Mol Sci. 2023; 24(4).

PMID: 36834795 PMC: 9967340. DOI: 10.3390/ijms24043366.

Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.

Nollet L, Vanakker O Int J Mol Sci. 2022; 23(23).

PMID: 36499615 PMC: 9738718. DOI: 10.3390/ijms232315288.

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and -unexpected fatal complication in a newborn.

Gurzu S, Burlacu D, Santa R, Jung I, Slevin M, Fulop E Front Pediatr. 2022; 10:922379.

PMID: 36061401 PMC: 9434010. DOI: 10.3389/fped.2022.922379.

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