Angiokeratoma corporis diffusum（Fabry）の1例—臨床的・電子顕微鏡学的研究

A CASE OF ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY): CLINICAL AND ELECTRON MICROSCOPIC STUDY

　Angiokeratoma corporis diffusum（Fabry）（以下ACDと略記する）は，1898年Fabry^1）によりPurpura haemorrhagica nodularisとして，また同年Anderson^2）によりA case of "angeiokeratoma"として別々に報告されたことにはじまる。その後の研究により，本症は他のAngiokeratomaとよばれるものと異なつて，系統的リピドージスであることが確立されている。

　われわれも本症の1家系の3名を観察する機会を得たので，うち1名について現在までに検索された臨床的ならびに組織学的結果について報告したい。

　A 18-year-old man with angiokeratoma corporis diffusum (Fabry) was studied clinically and light and electronm icroscopically. The patient showed typical exanthemas distributed mostly between the navel and the knees, erythromelalgialike symptom, hypohidrosis, proteinuria, impaired concentration power of the kidneys, ankle clonus and fever.

　Light microscopy of the biopsied skin from right trochanter area revealed many osmiophilic granules within nedothelial cells and connective tissue cells after the specimen was fixed with OsO₄ and embedded in epon, but not after using formalin and paraffin.

　Electron microscopic study revealed that the osmiophilic granules were found within endothelial cells, pericytes, connective tissue cells and those of perineurium. Four types of ultrastructure were seen in th egranules; lamellar structure with 54-65A periodicity, round arrangements, finely granular structure with moderately high electron density andamorphous structure with high electron density. Frequently peculiar bundles were seen within endothelial cells. The bundles sometimes contained the four types of ultrastructure mentioned above and were connected peripherally with fine cytoplasmic filaments which were dispersed irregularly within the cells.

　These findings suggest that there are close relationship among the fine cytoplasmic filaments the peculiar bundles described by us and the characteristic lamellar structure, concerning the development of the granules in Fabry's disease.