Angiokeratoma corporis diffusum Fabry (Thesaurismosis hereditaria Ruiter-Pompen-Wyers)

Abstract

The literature on ACD [angiokeratoma corporis diffusum] Fabry is reviewed and the symptomatology of this disease is summarized. To the 47 cases reported in the literature a series of 7 new ones is added. Granules were demonstrated in endothelial and muscle cells of the vessels in skinbiopsies (stained with Sudan-black and scarlet red after fixation in formalin and 3% potassium bichromate) of all 7 patients examined. In controls this staining gave always negative results. By demonstrating the lipoid-storage the disease can be diagnosed even in cases where clinical symptoms fail. Especially in women the teleangiectasias often are scarce and other clinical symptoms may fail or develop only at an advanced age. Investigations on the pain in the extremities provoked by low and high temperatures as well as on the hypohidrosis in some patients are reported. The histopathology of the teleangiectasias in the skin is described. It is proved that the disease is hereditary in the male as well as in the female line. In one family described the disease occurs certainly in 3, probably in 4 generations. The name thesaurismosis hereditaria Ruiter-Pompen-Wyers is advocated.