5. Clinical Presentations


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Angiokeratomas

Angiokeratomas are some of the features of Fabry Disease to look for on physical examination. The purple spots on the lips, hands and belly button of these patients are called Angiokeratomas. They are vascular abnormalities, they don’t blanch with pressure and they do stick up a little bit on the physical exam. The challenge is that pediatricians might not see them in their pediatric population. Angiokeratomas typically aren’t present until adolescence and they’re not very commonly seen in female patients.

 

 

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