Familial tumoral calcinosis
ORPHA:53715· ICD-10 M11.2
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood