Tumoral calcinosis is a rare familial condition characterized by painless, peri-articular masses. The term should be strictly used to refer to a disease caused by a hereditary metabolic dysfunction of phosphate regulation associated with massive periarticular calcinosis and should not be used to refer to soft-tissue calcification in general.
The condition predominantly affects young black patients with an equal male to female ratio.
Most patients present with lumps adjacent to joints. They are usually painless, but some patients describe pain and tenderness. Involvement of large joints is typical, although the knee is rarely involved. The underlying bone is normal.
One-third of cases are familial (autosomal dominant) with abnormal FGF 23 7, and serum calcium is normal (some sources state that hyperphosphataemia is common).
It is characterised by large amorphous calcific densities that surround joints. These are separated into lobules by fibrous septa and may demonstrate fluid/calcium levels (milk of calcium / hydroxyapatite crystals in suspension).
The most common locations are (in descending order of frequency) 2:
Tumoral calcinosis has a typical appearance on plain radiographs with amorphous and multilobulated ("cloud-like") calcification located in a periarticular distribution.
CT better delineates the calcific mass. There is no erosion or osseous destruction by adjacent soft-tissue masses which is another distinguishing finding of tumoral calcinosis from other pathologies.
MR imaging with T2-weighted sequences generally shows inhomogeneous high-signal intensity even though there is a large amount of calcification. T1-weighted sequences usually show inhomogeneous lesions with low signal intensity.
General imaging differential considerations include
- hyperparathyroidism: most frequently in chronic renal failure
- calcium pyrophosphate deposition disease (CPPD)
- myositis ossificans
- calcinosis circumscripta
- calcinosis universalis
- milk-alkali syndrome
- hypervitaminosis D
- calcinosis of chronic renal failure
- calcific tendonitis
- synovial osteochondromatosis
- synovial sarcoma
- calcific myonecrosis
- tophaceous gout
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- 4. Chefetz I, Sprecher E. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim. Biophys. Acta. 2009;1792 (9): 847-52. doi:10.1016/j.bbadis.2008.10.008 - Free text at pubmed - Pubmed citation
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- 6. Ichikawa S, Baujat G, Seyahi A et-al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am. J. Med. Genet. A. 2010;152A (4): 896-903. Am. J. Med. Genet. A (full text) - doi:10.1002/ajmg.a.33337 - Free text at pubmed - Pubmed citation
- 7. Larsson T, Davis SI, Garringer HJ et-al. Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. Endocrinology. 2005;146 (9): 3883-91. doi:10.1210/en.2005-0431 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Idiopathic tumoural calcinosis||✓|
|Primary tumoral calcinosis||✗|
|Familial tumoral calcinosis||✗|