GENETICS OF XANTHOMA TUBEROSUM MULTIPLEX

Abstract

THE PRIMARY essential xanthomatoses have been divided by Thannhauser and Magendantz,¹ Montgomery² and others on the basis of the clinical picture and the fat content of the blood. The xanthoma tuberosum type with which this paper will concern itself is characterized by hypercholesteremia and a tendency to xanthomatous involvement of the skin, tendon tumors and, of much graver consequence, early cardiovascular disease. Although the familial occurrence of this condition has been recognized by many observers³ since its description in 1851 by Addison and Gull, Török^3d was apparently the first to emphasize the hereditary nature of the disease. In the intervening years there have been several excellent reviews and reports touching on the genetic problems involved. The conclusions drawn have been of a conflicting nature, and the authors may be divided into several groups: (a) those⁴ who stated the belief that the mode of inheritance of