Recurrent Familial Normophosphatemic Tumoral Calcinosis: A Case Report

复发性家族性正常磷血症性肿瘤性钙质沉着症:病例报告

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Abstract

INTRODUCTION: Tumoral calcinosis (TC) is a rare disorder characterized by periarticular soft-tissue deposition of calcium around large joints. CASE REPORT: We report a recurrent familial case of a 63-year-old Indian female with progressive painless discharging mass over the left proximal thigh associated with extensive ophthalmological involvement in the form of perilimbal calcific deposits, angioid streak, pigment epithelial defects, and choroidal neovascular membrane in both eyes. Hematological parameters revealed normophosphatemic. Radiological investigation suggested periarticular calcific deposits with sedimentation sign, and the diagnosis was later confirmed on histopathological examination. CONCLUSION: We report the case because of its rarity and suggest thorough ophthalmological and genetic evaluation in each and every patient of TC.

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