Genetic Whispers in Hyperphosphataemic: Tumor Calcinosis in a 30-year-old.

Presentation: We present a case of Hyperphosphataemic Familial Tumoral Calcification (HFTC). A 30-year-old Indian male patient presented to our Rheumatology clinic complaining of joint pains involving his left elbow, right hip, and ankle. Examination was normal apart from a tender left elbow with firm swelling on the extensor surface and Positive Faber's test at his right hip. Laboratory analysis showed negative HLA-B27, normal routine parameters except for raised phosphate level. X-rays showed soft tissue calcifications at left elbow and right hip with faint calcifications around right knee and ankle. Dermatomyositis and Heterotopic Calcification Screen were negative. Diagnosis: Elbow swelling showed Calcium Phosphate crystals on histology. He was diagnosed with HFTC on the basis of positive genetic testing for homozygous GALNT3. His Fibroblast growth factor 23 (FGF-23) levels remained elevated. Treatment: He received dietary modifications with phosphate binders and referred to Endocrinology. Discussion: HFTC is a rare condition to consider in patients presenting with features of tumoral calcinosis who also have unexplained hyperphosphataemia. It can be confirmed by genetic testing.