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familial tumoral calcinosis

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0018891:  familial tumoral calcinosis
DC:0000445: 
GARD:0010877: 
Orphanet:53715: