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Images in Neurology
April 1999

The Cutaneous Stigmata of Fabry Disease: An X-linked Phakomatosis Associated With Central and Peripheral Nervous System Dysfunction

Arch Neurol. 1999;56(4):487. doi:10.1001/archneur.56.4.487

A 44-YEAR-OLD man, whose case history has been previously published,1 presented with a history of "knife-like, stabbing" pains in all 4 limbs since childhood. His parents also noted a persistent, nonpruritic rash of punctate pigmented lesions on his groin and abdomen in a "bathing trunk" distribution (Figure 1). Three maternal uncles with a similar rash had died of an undiagnosed kidney disease. When the patient was examined, he was noted to have spoke-like cataracts that did not require surgery. He later developed asymptomatic, subnephrotic proteinuria. Fifteen years later, he sought medical care for syncopal episodes attributed to dysautonomia. Serologic analysis revealed an α-galactosidase level less than 5% of normal. Skin biopsy specimens demonstrated "zebra bodies" from the accumulation of α-galactosidase A that is characteristic of Fabry disease.2