A case of xanthomatous skin changes and an abnormal serum lipoprotein pattern is described. The clinical and histological findings are those of diffuse "normolipemic" plane xanthoma.
The main features of the case are intracellular cholesterol deposits in the skin, and in serum, a reduced level of total high-density lipoproteins and also an abnormally low cholesterol content of the low-density and very low-density lipoprotein fractions.
The case does not correspond to any of the types of lipoprotein abnormality in the classification of Fredrickson and Lees. It shows some similarities to the two conditions of α-lipoprotein deficiency, Tangier disease, and familial lecithin-cholesterol-acyltransferase deficiency. The case appears to represent a type of lipoprotein abnormality, not previously reported.
Lindeskog GR, Gustafson A, Enerbäck L. Serum Lipoprotein Deficiency in Diffuse "Normolipemic" Plane Xanthoma. Arch Dermatol. 1972;106(4):529-532. doi:10.1001/archderm.1972.01620130057012