title: Angiokeratoma corporis diffusum (Fabry disease): ultrastructural studies of the skin.
abstract: A case of Fabry disease in a 34-year-old male who had typical exanthemas and familial occurrence is reported. Biochemical examinations revealed a decreased level of serum alpha-galactosidase (0.04 n mol/h/cc). On electronmicroscopy the granules specific for Fabry disease were observed in the skin lesions. By the excessive accumulation of specific granules in the vascular wall, the endothelial cells were replaced by thrombi and the muscle cells were disarrayed. This process might be followed by the appearance of teleangiectatic eruptions.
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000097:blood / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000648:ultrastructure*; D014960:X Chromosome