A rare disorder, Familial Tumoral Calcinosis, leads to development of ectopic calcium deposits in the soft tissue in the periarticular location or around the joints. Children and adolescents are most commonly affected with this disorder. The prominent symptom includes painless swelling around joints. The condition presents the calcium deposits most commonly around the shoulders, hips and elbows.
HOW IS FAMILIAL TUMORAL CALCINOSIS DIAGNOSED?
Diagnosis of Tumoral Calcinosis is based on the physical evaluation and the specific symptoms. Prenatal tests may be conducted by paediatricians in case of a family history of the disease. Biopsy of the tissue from the joints may be taken. CT scans and X-rays may be take to assess the condition of joints. Genetic testing may confirm diagnosis.
HOW IS FAMILIAL TUMORAL CALCINOSIS TREATED?
Treatment involves normalization of the serum phosphate levels. Surgical removal of the calcinosis is recommended but in case the surgical removal is not complete, there is every possibility of recurrence.
DID YOU KNOW?
The first clinical description of familial tumoral calcinosis (FTC) dates back to 1898 when two French dermatologists, Giard and Duret, reported for the first time the cardinal features of the disorder under the name endotheliome calcifié.