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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 -galactosidase, electron microscopic study of angiokeratoma specimens, urinary globotriaosylceramide determination, and sequencing of the exons of the -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 -galactosidase sequencing . . . [Full Text of this Article]

AUTHOR INFORMATION
Dan Lipsker, MD; Carine Kieffer, MD; Hamid Nojavan, MD; Bérénice Doray, MD; Bernard Cribier, MD

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Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities
Brent Kelly and Erica Kelly
Arch Dermatol. 2006;142(5):615-618.
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