FABRYS-DISEASE (ANGIOTERATOMA-CORPORIS-DI FFUSUM)

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.