Familial tumoral calcinosis

Abstract

Introduction: Tumoral calcinosis is a rare condition characterised by progressive, ectopic, periarticular deposits of calcium. These tumour-like growths often infiltrate muscle and tendon, usually presenting as multiple masses or as a painless, solitary mass. Our case report will focus on familial tumoral calcinosis, an autosomal recessive metabolic disorder generally observed in patients within the first two decades of life.

Case presentation: Our case report introduces two Sudanese siblings from consanguineous parents who presented with simultaneous recurrent multiple soft tissue swellings.

Conclusion: The cases discussed highlight the main features of familial tumoral calcinosis and indicate the need for improved clinical guidance on the investigations, treatment and genetic screening of familial tumoral calcinosis.

Keywords: Familial; calcinosis; metabolic; paediatrics.