Cutaneous Cholesterol Ester Deposition in Tangier Disease

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.