Diseases, Conditions, Syndromes

Hyperphosphatemic familial tumoral calcinosis complicated by pica

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.

HFTC results from increased renal resorption of phosphate. Excess phosphate deposits into soft tissue with calcium. Autosomal recessive mutations in fibroblast growth factor 23 (FGF23), GALNT3 or Klotho lead to reduced levels of FGF23, an important phosphate regulator.1 The aim of treatment is to control plasma phosphate with a low-phosphate diet and calcium-free phosphate binders.

Over the next few years, the bony lumps increased due to difficulties in achieving low phosphate intake and compounded by significant pica. When bored or stressed, she would pick at and ingest…

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