ANGIOKERATOMA corporis diffusum or Fabry's disease is a genetically determined disorder of lipid metabolism which displays a sex-linked recessive transmission. In hemizygous male subjects, it produces the characteristic skin lesions, dilated conjunctival blood vessels, and corneal opacities, together with renal failure, and cerebral and cardiac complications. In the heterozygous female subjects, abnormalities are usually limited to the eyes, although the abnormal lipid deposits have been dected in other organs. The abnormality responsible for the disorder has been shown by Brady et al1 to be a deficiency of ceramide trihexosidase, which results in the accumulation of ceramide trihexoside in various tissues.2,3
The clinical manifestations of the disease4,5 are thought to be due either to direct involvement of various tissues by lipid deposits or to arise secondarily to vascular disease from involvement of small arteries and arterioles. Frequently, an organ such as the heart, kidney, or brain may be
Kocen RS, Thomas PK. Peripheral Nerve Involvement in Fabry's Disease. Arch Neurol. 1970;22(1):81–88. doi:10.1001/archneur.1970.00480190085014
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