Tumoral calcinosis

Tumoral calcinosis is a rare disease seen in adolescents and young adults and consisting of calcifications in periarticular soft tissue. Mutations in fibroblast growth factor 23 and GalNAc transferase 3 have been identified in the familiar forms of tumoral calcinosis. A 10 year-old boy of light phototype presented multiple calcified periarticular masses since the age of seven years as well as sciatica secondary to nerve compression. Laboratory examinations revealed hyperphosphoraemia. Serum calcium levels, kidney tests, parathormone assay and muscle enzymes were all normal. Histology of a cutaneous biopsy sample revealed dermal calcifications. Inclan's tumoral calcinosis was diagnosed. Surgical resection was performed and drug treatment comprising phosphate chelators (aluminium hydroxide) was administered. At five months, other sites were apparent. This case of tumoral calcinosis is notable in terms of its sporadic onset in a child of light phototype and by the presence of compression of the external sciatic nerve. The diagnosis was made after ruling out other causes of soft tissue calcification.