familial tumoral calcinosis

Pathology

• massive Ca+2 deposits in the skin & subcutaneous tissues

Genetics

• autosomal recessive
• associated with defects in GALNT3 gene
• associated with defects in FGF23
• associate with defects in the klotho precursor (KL)

Clinical manifestations

• some patients manifest recurrent, transient, painful swelling of the long bones & absence of skin involvement

Laboratory

• serum phosphate: hyperphosphatemia

Radiology

• long bones: periosteal reaction & cortical hyperostosis in some patients

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/211900