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Hyperphosphatemic familial tumoral calcinosis complicated by pica
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A 5-year-old girl presented with a gradually enlarging hard lump over the extensor surface of her left elbow (figure 1A). Phosphate level was elevated at 2.69 mmol/L (normal 0.9–1.8) with an inappropriately low fractional excretion of urinary phosphate of 3.7% (normal >15%). Hyperphosphataemic familial tumorous calcinosis (HFTC) was diagnosed with a genetic homozygous mutation in N-acetylgalactosaminyltransferase-3 (GALNT3) identified.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.