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Intertriginous Xanthoma in an Infant with Familial Hypercholesterolemia
´ëÇÑÇǺΰúÇÐȸÁö 2014³â 52±Ç 3È£ p.178 ~ p.181
±è¿µ¿í(Kim Young-Uk) - Sungkyunkwan University School of Medicine Samsung Changwon Hospital Department of Dermatology
À̽¿ì(Lee Seung-Woo) - Sungkyunkwan University School of Medicine Samsung Changwon Hospital Department of Dermatology
±è°èÁ¤(Kim Kea-Jeung) - Sungkyunkwan University School of Medicine Samsung Changwon Hospital Department of Dermatology
ÇãÀºÇÊ(Heo Eun-Phil) - Sungkyunkwan University School of Medicine Samsung Changwon Hospital Department of Dermatology
Abstract
Familial hypercholesterolemia is an autosomal dominant inherited metabolic disease characterized by high serum low-density lipoprotein (LDL) cholesterol concentrations, and xanthoma formation. There are multiple types of xanthomas, such as eruptive, tendinous, tuberous, and planar. Intertriginous xanthomas are rare, but, if present, are typically associated with familial homozygous hypercholesterolemia. We here report on a 15-month-old infant who presented with multiple yellowish linear patches and plaques on the intertriginous areas. Serum lipoprotein electrophoresis showed a marked increase in beta-fraction, suggesting type IIa hyperlipoproteinemia. Histopathology showed numerous aggregates of foam cells in the dermis. We performed DNA analysis and revealed the presence of an LDL receptor gene mutation. In summary, we here report an interesting case of an infant with intertriginous xanthoma. This condition is so rare that it has not been reported in the Korean dermatologic literature before.
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Familial hypercholesterolemia, Intertriginous xanthoma, LDL receptor mutation
KMID :
0363220140520030178
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