familial tumoral calcinosis
Findings
No curated finding names familial tumoral calcinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018891), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Calcification of musclesHPOHP:0100249
- Very frequent (80% to 99% of cases)
- Periarticular subcutaneous nodulesHPOHP:0007470
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
- HyperostosisHPOHP:0100774
- Frequent (30% to 79% of cases)
- Skin rash
Show the remaining 6
- Hoarse voiceHPOHP:0001609
- Occasional (5% to 29% of cases)
- HyperhidrosisHPOHP:0000975
- Occasional (5% to 29% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
- NephrocalcinosisHPOHP:0000121
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)