Abstract
Familial tumoral calcinosis is a kind of autosomal recessive disease that is associated with gene mutation. Familial tumoral calcinosis is grouped into two types: hyperphosphatemia and normal phosphatemia. It is clinically characterized by calcinosis in skin, cutaneous tissue, periarticular soft tissue and (or) intemal tissue. Patients with normal phosphatemia have inflammatory manifestations that are absent in those with hyperphosphatemia. The diagnosis of familial tumoral calcinosis depends on clinical manifestations, radiology and pathology. Both drugs and surgical excision can be used in the treatment of familial tumoral calcinosis, but the outcome is unsatisfied. Key words: Calcinosis; Heredity; Genes; Mutation
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