Pseudoxanthoma Elasticum

This patient is exhibiting the findings consistent with the diagnosis of pseudoxanthoma elasticum. The yellow lesions over her eyelids are xanthelasmas which are are filled with lipid laden macrophages. Xanthomas can also be found on the extensor surface of the arms:

Or on the hands and achilles tendon:

Her eye is exhibiting what is some times called the "arcus senilis" which in a young person should prompt a search for a lipid disorder. This is not necessarily the case with elderly individuals and can be found in elderly people with no lipid disorders. Most people now use the term "arcus" only.

The arrowheads in the fundoscopic picture are pointing to what are called angiod streaks. These vessel like streaks are actually breaks in Bruch's membrane beneath the retina and can be a threat to vision if subretinal neovascularization occurs. Fortunately, the neovascularization will respond to laser therapy and prompt referral to an ophthamologist is warranted.

Other important physical exam findings include a characteristic neck finding:

As well as other interesting elicitable neck findings:

They may also have the same hyperpigmented angiod lesions in skin fold areas, of which the groin is one such site:

Pseudoxanthoma elasticum is a rare condition but it is important to pick up due to the patient's premature atherosclerosis. You should also keep them under careful ophthamologic review to allow laser therapy if it is needed. Pseudoxanthoma elasticum is one disease to consider in the differential diagnosis of premature atherosclerosis. Others to include are:

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