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November 2006

Familial ACD With No Recognizable Enzyme Abnormalities

Arch Dermatol. 2006;142(11):1508-1518. doi:10.1001/archderm.142.11.1509-a

We read with interest the report by Kelly and Kelly1 of the case of a 33-year-old man with angiokeratoma corporis diffusum (ACD) with no recognizable enzyme abnormality.

In our practice, we saw 2 sisters, aged 26 and 31 years, who from puberty on developed numerous angiokeratomas in a typical bathing suit distribution (Figure). No other family member had ACD or a relevant clinical history. Histologic evaluation confirmed the diagnosis of angiokeratoma. The clinical distribution of these ACD lesions was that typically observed in X-linked Fabry disease. We therefore proceeded to do an extensive workup, including α-galactosidase, electron microscopic study of angiokeratoma specimens, urinary globotriaosylceramide determination, and sequencing of the exons of the α-galactosidase gene. Because the findings of these investigations were normal, we ruled out Fabry disease with 99% certainty (allowing a 1% margin of error because a partial deletion would not be detected with the α-galactosidase sequencing test). Of importance, especially in female subjects, the determination of α-galactosidase activity is not sufficient to rule out the carrier state of Fabry disease.2

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