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May 1973

Intertriginous Xanthomata in Type 2 Hyperbetalipoproteinemia

Arch Dermatol. 1973;107(5):761-762. doi:10.1001/archderm.1973.01620200075022

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.