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.
Waldorf DS, Levy RI, Fredrickson DS. Cutaneous Cholesterol Ester Deposition in Tangier Disease. Arch Dermatol. 1967;95(2):161–165. doi:10.1001/archderm.1967.01600320017003
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