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

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.     

Using imaging methods to assess severe calcinosis in juvenile dermatomyositis: A case report

Calcinosis and lipodystrophy are severe complications of juvenile dermatomyositis (JDM). Up to 20% of patients have calcinosis, and the onset of calcinosis usually occurs 1 to 3 years after that of the illness. We report a case of JDM with severe complications of calcinosis and lipodystrophy, and we assess calcinosis using a variety of imaging methods. To evaluate the patient's inflammatory state, bone scintigraphy was performed, which demonstrated increased uptake in the right scapula, in addition, multiple calcifications are present subcutaneously on the shoulder and back, and inflammatory imaging features are also present in the right knee joint.