Fabry's disease (Angiokeratoma corporis diffusum) is a rare X-chromoso
me linked recessive disorder belonging to the group of sphingolipoidos
es. The basic defect involves the gene encoding alpha-galactosidase. B
ecause this enzyme is responsible for decomposition of glycosphingolip
ids, its deficiency results in their accumulation in endothelial and s
mooth muscle cells. With time, generalized angiokeratomas, paresthesia
s, renal and cardiac insufficiency and cerebrovascular complications d
evelop. We report a patient who in addition to the well-described find
ings also showed unique nail fold capillary changes not described so f
ar. Analysis of serum concentration of alpha-galactosidase identified
three female heterozygous carriers in the patient's family.