Two children with type 2 hyperbetalipoproteinemia were noted to have a previously undescribed type of intertriginous xanthoma (ITX). Family members of one child had clinical evidence of type 2 disease. Both patients demonstrated a different spectrum of xanthoma types, and review of reported cases of familial hyperbetalipoproteinemia revealed a similar variation in clinical expression. Recognition of distinctive phenotypic features, such as ITX, may lead to the differentiation of discrete subgroups among patients with type 2 hyperbetalipoproteinemia.