title: Mineralization/anti-mineralization networks in the skin and vascular connective tissues.
abstract: Ectopic mineralization has been linked to several common clinical conditions with considerable morbidity and mortality. The mineralization processes, both metastatic and dystrophic, affect the skin and vascular connective tissues. There are several contributing metabolic and environmental factors that make uncovering of the precise pathomechanisms of these acquired disorders exceedingly difficult. Several relatively rare heritable disorders share phenotypic manifestations similar to those in common conditions, and, consequently, they serve as genetically controlled model systems to study the details of the mineralization process in peripheral tissues. This overview will highlight diseases with mineral deposition in the skin and vascular connective tissues, as exemplified by familial tumoral calcinosis, pseudoxanthoma elasticum, generalized arterial calcification of infancy, and arterial calcification due to CD73 deficiency. These diseases, and their corresponding mouse models, provide insight into the pathomechanisms of soft tissue mineralization and point to the existence of intricate mineralization/anti-mineralization networks in these tissues. This information is critical for understanding the pathomechanistic details of different mineralization disorders, and it has provided the perspective to develop pharmacological approaches to counteract the consequences of ectopic mineralization.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Li
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D002114:Calcinosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004195:Disease Models, Animal; D005819:Genetic Markers; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D054559:Hyperphosphatemia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D051379:Mice; D011561:Pseudoxanthoma Elasticum / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D061205:Vascular Calcification / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014652:Vascular Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology
chemical_list: D015415:Biomarkers; D005819:Genetic Markers