6533b7d3fe1ef96bd1260972

RESEARCH PRODUCT

Two-year-old girl with tuberous xanthomas.

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A 2-year-old girl was referred for evaluation because she had two nodular lesions located on both heels, and another elongated lesion in the intergluteal cleft. On physical examination, two yellow to orange well-defined nodules, suggestive of xanthomas, were bilaterally located on the Achilles tendon areas (figure 1A). Moreover, another yellowish, slightly raised lesion with band-like morphology was seen in the intergluteal cleft (figure 1B). There were no other anomalies on physical examination. Figure 1 (A) Tuberous xanthoma located on the left heel. (B) Planar xanthoma located in the intergluteal cleft. (C) Peripheral blood smear examination showing numerous red cells and two macrothrombocytes. The white cell count was 12.9×109/L (normal 4.1–12), red cell count 5.0×1012/L (4.1–5.2), haemoglobin 11.8 g/dL (11.5–15.5) and platelet count 288×109/L (143–390). A peripheral blood smear examination showed that 5% of platelets were macrothrombocytes (figure 1C). The lipid profile revealed a very high cholesterol level: 17.8 mmol/L (688 mg/dL). Low-density lipoprotein (LDL) cholesterol: 14.2 mmol/L (546 mg/dL). Apoprotein B: 4.37 mmol/L (169 mg/dL). High-density lipoprotein cholesterol, very-low-density lipoprotein cholesterol, triglyceride levels and apoprotein A were normal. The remaining serum chemistry values were within normal limits. Examination of the stool for steatorrhoea was also negative. Carotid and abdominal ultrasound did not find any abnormality. A cutaneous biopsy of the intergluteal lesion showed numerous foam cell aggregates in the reticular dermis. ### Questions for discussion 1. What are the causes of xanthomas in a child? 2. What are the causes of foam cells? 3. What are the causes of macrothrombocytes? 4. What additional tests should be undertaken? Xanthomatosis is a rare phenomenon in children and, when present, homozygous familial hypercholesterolaemia and, less frequently, autosomal recessive hypercholesterolaemia should be suspected. In patients with sitosterolaemia, xanthomas may …