Heliyon (Jun 2024)

Challenges in the diagnosis and management of tumor-induced osteomalacia: A case report

  • Anna Maria Bochicchio,
  • Aldo Cammarota,
  • Giovanni Storto,
  • Luciana Possidente,
  • Antonio Villonio,
  • Ludmila Carmen Omer,
  • Geppino Falco,
  • Simona Laurino,
  • Sabino Russi

Journal volume & issue
Vol. 10, no. 11
p. e31949

Abstract

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The present case report is aimed to highlight the difficulty and the reason for the delayed diagnosis of phosphaturic mesenchymal tumors, emphasizing the need of standardized protocols for diagnosis, surgery and follow-up in high-volume hospitals. The clinical signs and symptoms, diagnostic and therapeutic procedures, immunohistological features were analyzed. Delayed diagnosis of phosphaturic mesenchymal tumor was primarily due to non-specific clinical symptoms such as fatigue, muscular and bone pain, and multiple fractures. This cryptic clinical picture made the diagnosis tricky that led to treatment of patient for non-specific pain and stress fractures before to consider the tumor-induced osteomalacia syndrome. Some well-documented studies were found in the literature in which the history of trauma is a critical trigger of glomus tumors. Extra-subungual tumors most frequently occur in the knee and ankle regions, particularly among young adults, and the diagnosis is typically made approximately 7.2 years after initial symptom onset. The difficult tumor localization represented an additional obstacle to the prompt treatment, leading to delayed curative surgery.

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