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 reddish papules were scattered over his entire body and were especially numerous on his elbows, knees, penis and scrotum. An electron-microscopic study revealed a number of vacuoles in the cytoplasm of the vascular endothelial cells. This finding suggests that the angiokeratomas resulted from an injury of the endothelial cells due to the storage of metabolic material. A laboratory examination demonstrated a deficiency of both the beta-galactosidase and neuramidase activity in his leukocytes and fibroblasts. A restriction site analysis of PCR-amplified genomic DNA 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 protective protein gene.