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.
Elias P, Goldsmith LA. Intertriginous Xanthomata in Type 2 Hyperbetalipoproteinemia. Arch Dermatol. 1973;107(5):761–762. doi:10.1001/archderm.1973.01620200075022
Customize your JAMA Network experience by selecting one or more topics from the list below.