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Familial tumoral calcinosis

Synonym(s) -
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
  • M11.2
  • C0263628
MeSH -
  • 10059364


Disease definition

Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis (see these tems).

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