Korean J Dermatol.  2014 Mar;52(3):178-181.

Intertriginous Xanthoma in an Infant with Familial Hypercholesterolemia

• Kim YU
• Lee SW
• Kim KJ
• Heo EP

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.

Keyword

Familial hypercholesterolemia; Intertriginous xanthoma; LDL receptor mutation

MeSH Terms

Cholesterol
Dermis
DNA
Electrophoresis
Foam Cells
Humans
Hypercholesterolemia
Hyperlipoproteinemia Type II*
Infant*
Lipoproteins
Metabolic Diseases
Receptors, LDL
Xanthomatosis*
Cholesterol
DNA
Lipoproteins
Receptors, LDL