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Hyperphosphatemic familial tumoral calcinosis complicated by pica
  1. Rachel Louise Boal1,
  2. Bozena Starzyk2,
  3. Jennifer Coles3,
  4. Catherine Owen1,
  5. Yincent Tse4,5
  1. 1Department of Paediatric Endocrinology, Great North Children’s Hospital, Newcastle Upon Tyne, UK
  2. 2Department of Paediatric Radiology, Great North Children’s Hospital, Newcastle Upon Tyne, UK
  3. 3Department of Paediatric Clinical Psychology, Great North Children’s Hospital, Newcastle Upon Tyne, UK
  4. 4Department of Paediatric Nephrology, Great North Children’s Hospital, Newcastle Upon Tyne, UK
  5. 5Faculty of Medical Studies, Newcastle University, Newcastle upon Tyne, UK
  1. Correspondence to Dr Rachel Louise Boal, Department of Paediatric Endocrinology, Great North Children's Hospital, Newcastle Upon Tyne NE1 4LP, UK; rachel.boal{at}nhs.net

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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.

Figure 1

X-ray left …

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Footnotes

  • Twitter @YincentTse

  • 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.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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