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January 2008

Cutaneous Polyarteritis Nodosa in a Patient With Fabry Disease

Arch Dermatol. 2008;144(1):122-123. doi:10.1001/archdermatol.2007.20

Fabry disease is an X-linked lysosomal storage disease due to deficiency of the lysosomal hydrolase α-galactosidase A. We report herein a case of cutaneous polyarteritis nodosa (PAN) in a patient with Fabry disease manifesting as multiple tender nodules.

A 22-year-old man had a 12-year history of hypohidrosis, acroparesthesia, and painful sensation over the chest and shoulder in hot weather or after exercise. He had multiple angiokeratomas on the buttocks and limbs since adolescence (Figure 1). His older brother had similar symptoms and signs, and both were diagnosed as having Fabry disease at another medical center in 2003. According to the patient's statement, he received irregular enzyme replacement therapy (ERT) 5 times during March and April 2003.

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