Sunday, December 9, 2012

Fabry's Disease

Trust your eyes.  When you see something that looks like cherry hemangiomas, trust your eyes.  Many of you ended up working this question backward, by trying to put something together that had both skin lesions and urine pathology, and came up with Henoch Schoenlein Purpura, which, of course, looks nothing like these angioma-like structures in the top picture.  You didn't trust your eyes.  

Fabry's Disease is an X-linked disorder which leads to deposition in the endothelium of a certain kind of lipid which leads to the pathophysiology.  Many times the disease manifests itself with symptoms of a CVA, or renal insufficiency, or myocardial infaction in a relatively young person, and if it is in association with these lesions we see above, known as angiokeratomas (which look  a  lot like cherry angiomas) then one should consider Fabry's Disease.  The finding is classically called angiokeratoma corporis diffusum.  

The classic finding in the urine is the lipid droplets, as seen above.  It is rare that derm will be the first to make the diagnosis of Fabry's but at the same time we often times can help the other specialties tie it all together.

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