Eruptive Xanthomas in Lipoprotein Lipase Deficiency

A 12-year-old-boy was referred by his pediatrician for assessment of eruptive skin lesions (Figure 1). The boy has lipoprotein lipase (LPL) deficiency because of homozygous mutation in the LPL gene diagnosed in neonatal age with acute onset of cardiac failure and bilateral pneumothorax. He was initially treated with plasmapheresis and then with lipid dietary restriction, omega3 oil, and fibrates, but the compliance to dietotherapy prescriptions worsened during time. Blood exams revealed a chylous appearance (Figure 2).

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