Fabry's disease in a black man without skin lesions

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Abstract
Article abstract A 31-year-old black man with unexplained proteinuria and burning sensations in hands and feet showed increased excretion of urinary ceramide trihexoside and absence of alpha galactosidase in leukocytes. A kidney biopsy was performed. Light and electron microscopic-changes were consistent with Fabry's disease. Despite the lack of cutaneous lesions, biopsy of the skin and of the gingiva was done; light and electron microscopy of both exhibited changes similar to those seen in the kidney. Electron microscopy of cultured fibroblasts from the skin also showed intracytoplasmic inclusions similar to those in the other organs studied. We suggest that any patient who has painful paresthesias and a combination of renal or cardiovascular abnormalities should be studied for Fabry's disease, even in the absence of a skin rash.

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