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Two-year-old girl with tuberous xanthomas
  1. Jose M Martin1,2,
  2. Ana Cuesta3,
  3. Rebeca Velasco1,
  4. Ana Herrero4,
  5. Dolores Ramon1,2,
  6. Carlos Monteagudo2,5
  1. 1 Department of Dermatology, Hospital Clinico Universitario, Valencia, Spain
  2. 2 Medical School, University of Valencia, Valencia, Spain
  3. 3 Department of Genetics, Hospital Clínico Universitario, Valencia, Spain
  4. 4 Department of Pediatrics, Hospital Clínico Universitario, Valencia, Spain
  5. 5 Department of Pathology, Hospital Clínico Universitario, Valencia, Spain
  1. Correspondence to Dr Jose M Martin, Department of Dermatology, Hospital Clinico Universitario, 46010 Valencia, Spain; Martin.josemaria{at}

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Clinical presentation

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.

Laboratory investigations

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 …

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  • Handling editor Tahir S Pillay.

  • Contributors All authors have contributed in (1) the conception or design of the work, or the acquisition, analysis or interpretation of data; (2) drafting the work or revising it critically for important intellectual content; (3) final approval of the manuscript; and (4) agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • 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 Parental/guardian consent obtained.

  • Ethics approval CEIC Hospital Clinico Universitario de Valencia.

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

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