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Hyperostosis and hyperphosphataemia syndrome: a diagnostic dilemma
M Nithyananth1, V M Cherian, T V Paul
1Department of Orthopaedics, Accident Surgery Unit I, Christian Medical College, Ida Scudder Road, Vellore 632004, India. manasseh@cmcvellore.ac.in
Singapore Medical Journal
|January 6, 2009
Summary
Hyperostosis and hyperphosphataemia (HHS) is a rare condition causing painful bone swelling in children. Early consideration of HHS is crucial for accurate diagnosis and effective treatment of this rare bone disorder.
Area of Science:
- Pediatrics
- Orthopedics
- Endocrinology
Background:
- Hyperostosis and hyperphosphataemia (HHS) is an exceptionally rare skeletal disorder.
- It can present with symptoms that mimic bone infections or tumors, complicating diagnosis.
Observation:
- A 9-year-old girl experienced recurrent painful swelling in her lower legs.
- Radiographs revealed tibial diaphysis sclerosis; investigations showed isolated hyperphosphataemia with increased renal phosphate reabsorption.
- Open biopsy indicated chronic inflammation with negative bacterial cultures.
Findings:
- The patient's symptoms improved with analgesics, suggesting a conservative management approach.
- HHS should be suspected in children aged 6–16 with painful diaphyseal swelling and isolated hyperphosphataemia.
- Recurrent painful episodes are characteristic of this condition.
Implications:
- Early recognition of HHS is vital to differentiate it from bone infections and tumors.
- Management may involve conservative measures like analgesics, with surgical decompression as a potential option if conservative treatments fail.
- This case highlights the importance of considering rare skeletal disorders in pediatric patients presenting with unexplained bone pain and hyperphosphataemia.
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