A Case of Recessive X-Linked Ichthyosis : Scale-Specific Abnormalities of Lipid Composition May Explain the Pathogenesis of the Skin Manifestation

We analyzed the lipid content of the scales, red blood cells, and plasma from a recessive X-linked icthyosis patient. The patient's scales accumulated cholesterol sulfate, had decreased levels of free sterols, sterol esters and sphingolipids, and lacked phospholipids. Although the accumulation of cholesterol sulfate was found in the patient's red blood cells and plasma as well as in the scales, other lipid composition abnormalities were specific for scales. Such scale-specific abnormal lipid composition may explain the pathogenesis of generalized hyperkeratosis and abnormal scaling of the disease.