Fabry's disease without angiokeratomas showing unusual eccrine gland vacuolation

An unusual case of Anderson-Fabry's disease with renal damage and bilateral corneal deposits but without angiokeratomas is presented.

Diagnosis was made by renal biopsy. Typical foamy transformation of endothelium, mesangium, tubular epithelial cells, vascular smooth muscle, and fibroblasts of kidney biopsy and similar changes of myoepithelial, perineural, and endothelial cells on the skin biopsy were observed. At electron microscopy, 'fingerprint-like' myelin figures were seen. The epithelial cells of eccrine sweat glands showed striking vacuolation but myelin figures were not seen.

We suggest that electron microscopic study of skin biopsies is indicated in the evaluation of patients clinically suspected of having Fabry's disease.

CITATION  J Pathol. 1992 May;167(1):65-8