Dermal deposition of cholesterol esters was found in cutaneous papules or clinically normal skin in four of the five known living patients with Tangier disease (familial α- or high-density lipoprotein deficiency). Five patients with Niemann-Pick disease and three normal patients studied in like manner exhibited no evidence of cutaneous cholesterol ester deposition.
These cutaneous findings will be useful in the diagnosis, follow-up, and study of this rare and interesting syndrome.
Donald S. Waldorf, Robert I. Levy, Donald S. Fredrickson. Cutaneous Cholesterol Ester Deposition in Tangier Disease. Arch Dermatol. 1967;95(2):161–165. doi:10.1001/archderm.1967.01600320017003