From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

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, a

SUBMITTER: De Vilder EY 

PROVIDER: S-EPMC4517332 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature