Angiokeratomas in the Intensive Care Unit

 in Images in Clinical Medicine

Case presentation
A 35-year-old Latin-American gentleman male with a history of Fabry’s disease presented for continuation of recombinant ceramide trihexosidase infusion therapy. Because of a prior allergic reaction, the patient was admitted to the intensive care unit during his infusion. He was first diagnosed in 2000, by genetic testing due to a strong male family history of the disease and had been receiving infusions every two weeks since 2007. Alphagalactosidase A level was 0.001%. He reported a history of anhidrosis, blurry vision, fatigue, headache, acroparesthesia, vertigo and diffuse angiokeratomas. These angiokeratomas (Figures 1 and 2), had a “bathing-trunk” distribution, but were also present in the inner labial mucosa as well as palms of the hands.

Angiokeratomas in the Intensive Care Unit

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