Abstract

HEREDIA, Loreto; ARELLANO, Javier  and  CORREDOIRA, Yamile. Tuberous xanthomas in a pediatric patient: a clue to the early diagnosis of a severe and infrequent disease. Arch. argent. pediatr. [online]. 2022, vol.120, n.1, pp.151-160.  Epub Feb 01, 2022. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2022.e34.

Cutaneous xanthomas reflect lipid deposition on the skin and may be the only early manifestation of a childhood- onset dyslipidemia. Characteristics and distribution of the xanthomas signalize the underlying pathology, tuberous xanthomas being strongly associated with homozygous familial hypercholesterolaemia, an extremely rare condition. Its early detection provides a therapeutic window to prevent accelerated atherosclerosis and mortality. We present the case of a patient who started at two years with tuberous xanthomas, which were the diagnostic clue to identify the underlying homozygous familial hypercholesterolaemia.

Keywords : xanthomas; familial hypercholesterolemia.

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