A 21-year-old man developed clinical angiokeratoma corporis diffusum at about the age of 4 years. The initial diagnosis was based on typical skin and histological findings. Recent enzyme studies on this patient have revealed a severely reduced α-L-fucosidase activity but a normal α-galactosidase activity; earlier reports have associated angiokeratoma corporis diffusum with decreased α-galactosidase activity. These findings suggest that cutaneous angiokeratoma corporis diffusum can occur with at least two different enzyme abnormalities. Electron micrographs have shown abnormal storage vacuoles in endothelial cells, histiocytes, fibroblasts, and within keratinocytes.
Epinette WW, Norins AL, Drew AL, Zeman W, Vimalkumar P. Angiokeratoma Corporis Diffusum With a-L-Fucosidese Deficiency. Arch Dermatol. 1973;107(5):754-757. doi:10.1001/archderm.1973.01620200068020