Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) in a One-Year-Old Child: A Case Report and Literature Review
| Author | Marjan Shakiba | en |
| Author | Abdollah Karimi | en |
| Author | Zahra Ghomi | en |
| Author | Masoumeh Sadat Montazeri | en |
| Orcid | Marjan Shakiba [0000-0003-3884-5466] | en |
| Orcid | Abdollah Karimi [0000-0002-4225-0097] | en |
| Issued Date | 2025-01-31 | en |
| Abstract | 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. | en |
| DOI | https://doi.org/10.5812/apid-150494 | en |
| URI | https://brieflands.com/journals/apid/articles/150494 | en |
| Keyword | Abscess | en |
| Keyword | Calcification | en |
| Keyword | Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) | en |
| Publisher | Brieflands | en |
| Title | Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) in a One-Year-Old Child: A Case Report and Literature Review | en |
| Type | Case Report | en |