Lipoprotein electrophoresis in recessive X-linked ichthyosis

Abstract

Recessive X-linked ichthyosis (RXLI) is consistently associated with steroid sulphatase deficiency, and a definite diagnosis can be made by measurement of the activity of this enzyme, e.g. in cultured skin fibroblasts and leucocytes. Demonstrating an increased electrophoretic mobility of plasma low-density lipoprotein in RXLI patients has been proposed as a simpler method for the diagnosis of this condition. Our findings in 7 RXLI patients and 7 normal controls confirmed that a discrimination between patients and controls can be obtained by routine lipoprotein electrophoresis. However, due to variation in the results of repetitive performances further studies are needed to evaluate the overall reliability of this diagnostic approach.