hyperphosphatemic familial tumoral calcinosis (hftc) in a one-year-old child: a case report and literature review

Introduction: hyperphosphatemic familial tumoral calcinosis (hftc) is a rare autosomal recessive metabolic disorder characterized by abnormal phosphate regulation and soft tissue calcifications. early diagnosis is crucial for optimal management to prevent complications. case presentation: a one-year-old child presented with intermittent fevers and a gluteal mass. ultrasound revealed a calcified abscess, and biopsy confirmed a pseudocyst. further workup identified elevated blood calcium, phosphorus, and neutropenia. the patient was ultimately diagnosed with hftc. discussion: early diagnosis of hftc is challenging due to the rarity of the disease and the potential for non-specific initial symptoms. this case highlights the importance of considering hftc in the differential diagnosis for a young child with unexplained soft tissue masses or skeletal abnormalities, even outside the usual age range. conclusions: this case report emphasizes the need for a high index of suspicion for hftc in pediatric patients with suggestive clinical features, regardless of age. early diagnosis and prompt intervention are essential to improve long-term outcomes and prevent complications.