Ichthyosis and Hypogonadism: Reflections on the so-called Rud’s Syndrome

Abstract

In many textbooks of dematology the designation “Rud’s syndrome” is still used to describe the association of an ill-defined type of ichthyosis with hypogonadism (essential syndrome) and other features that are not obligatory, such as mental retardation and a variable type of neurologic involvement. As discussed in the foregoing section on associated steroid-sulfatase deficiency, we can now explain most of these cases in terms of molecular biology as deletion mutations affecting the X chromosome. Of course, some patients remain who are not deficient in steroid sulfatase, indicating genetic heterogeneity. Time has dis proven the concept of Rud’s syndrome as a distinct entity. The main reason for this is that the diagnostic label of “Rud’s syndrome” was app Hed loosely to a varied clinical picture from the very beginning [20]. As the concept of Rud’s syndrome is so deeply rooted in the medical literature, a brief review of the history of this textbook chimera is warranted. I want to thank Prof. Happle, now of Nijmegen, who translated the two original reports by Rud, written in Danish.