症例は43歳の女性。両側頭部の側頭動脈の走行と一致した部位に索状硬結が出現し，体幹には紅色丘疹を認めた。索状硬結は病理組織学的に，側頭動脈の内膜から中膜にかけて，好中球，組織球に加えて著明な好酸球の浸潤を伴った血管炎の所見を認めた。巨細胞は確認できなかった。全身症状は認めず，CRP値などの炎症所見も正常であった。自験例はFujimotoらが提唱したjuvenile temporal arteritis with eosinophiliaに皮膚症状を伴ったものと考えられた。
A 48-year-old Japanese lady was examined in 1989. She was apparently healthy but showed numerous numbers of small petechiae-like angiokeratoma on her lower torso to upper thighs, axillae and beneath the breasts. Electron microscopic examination of the skin revealed largely dilated electron lucent lysosomes with fuzzy filamentous materials in vascular endothelial cells, fibroblasts, eccrine sweat gland cells and others. Urinary examination revealed unusual glycopeptides with GalNAc-Ser/Thr moieties. This disease was reported as a novel lysosomal storage disease with angiokeratoma corporis diffusum, crowned Kanzaki disease (MIM#104170). Soon, this disease was found to be caused by a deficit of α-N-acetylgalactosaminidase (α-NAGA, 4. 3. 2. 49) activity and a point mutation was found in the gene (R329W) encoding the enzyme. Another patient, 47-year-old Japanese woman, was found, and she also was apparently healthy, but had less angiokeratoma as compared to the first one. The gene mutation was found and the resultant mutant enzyme was R329Q. She excreted less amount of GalNAc-Ser in urine as compared to the first patient. These phenotypical differences between case 1 and 2 were estimated to be caused by the differences in the three-dimensional structures in mutated α-NAGAs (R329W v. s. R329Q). Schindler disease also shows α-NAGA deficiency but shows very severe central nervous symptoms before the age of one. Electron microscopically electron-dence material deposited in lysosomes in Schindler disease. Electron-dense material means that the substance are probably lipid- or lipoprotein-containg materials. This quiet contrasts to the findings in Kanzaki disease. These evidences suggest that Kanzaki disease is caused by a pure α-NAGA deficiency but Schindler disease is probably caused by together α-NAGA deficiency with some other factors.