Angiokeratoma corporis diffusum. Some clinical aspects.

Abstract

Angiokeratoma corporis diffusum is a disorder which has tended to escape the attention of paediatricians, though the first symptoms and signs usually develop during childhood. Since the original independent descriptions in 1898 by Anderson and by Fabry, it has been recognized as a systemic disease rather than a dermatological curiosity. Recent work by Sweeley and Klionsky (1963, 1966) suggests that there is a defect in glycolipid synthesis leading to the accumulation of a previously unidentified substance mainly in the walls of blood vessels and in the kidneys. They showed that the major part of this stored glycolipid was ceramide trihexoside or ceramide dihexoside, perhaps resulting from failure of the normal katabolic process to remove further hexose units.