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
Lipsker D, Kieffer C, Nojavan H, Doray B, Cribier B. Familial ACD With No Recognizable Enzyme Abnormalities. Arch Dermatol. 2006;142(11):1508-1518. doi:10.1001/archderm.142.11.1509-a