Familial tumoral calcinosis

Orpha code: 53715OMIM code: 610455

Definition

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

Disease data
Classification

Disease

ORPHA code
53715
OMIM code
610455
ICD10 code
M11.2
ICD11 code
-

No additional description.

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