ANGIOKERATOMA CORPORIS DIFFUSUM ASSOCIATED WITH GALACTOSIALIDOSIS

We describe a 34-year-old Japanese man with generalized angiokeratomas and various neurological symptoms since childhood. A number of reddis h papules were scattered over his entire body and were especially nume rous on his elbows, knees, penis and scrotum. An electronmicroscopic s tudy revealed a number of vacuoles in the cytoplasm of the vascular en dothelial cells. This finding suggests that the angiokeratomas resulte d from an injury of the endothelial cells due to the storage of metabo lic material. A laboratory examination demonstrated a deficiency of bo th the beta-galactosidase and neuramidase activity in his leukocytes a nd fibroblasts. A restriction site analysis of PCR-amplified genomic D NA revealed that the patient had an mRNA splicing junction mutation at the 5' donor splice site of the exon 7/intron 7 junction in the prote ctive protein gene.