Pseudoxanthoma elasticum and angioid streaks

A 33-year-old male known case of pseudoxanthoma elasticum complained of increased skin lesions over the neck and axilla for the past 3 years. There was no family history of similar complaints. Cutaneous examination showed multiple, discrete-to-confluent, yellowish, flat-topped papules with a cobblestone-like appearance distributed symmetrically over the neck and bilateral axilla [Figure 1]. The rest of the physical examination was found to be normal. Ocular examination on fundoscopy showed a peau d’orange appearance, comet tail lesions, and angioid streaks [Figure 2].

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Figure 1:

(a-c) Cutaneous examination shows numerous firm, round-to-oval, yellowish, non-follicular papules of a few millimeters in diameter, coalescing into plaques with a symmetric disposition around the neck and bilateral axilla.

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Figure 2:

A dilated fundoscopy examination of both eyes shows multiple hyperpigmented narrow irregular lines deep to the retina in a radiating fashion emanating from the disc suggestive of angioid streaks (red arrow) with comet-tail lesions seen in the mid periphery (blue arrow), there is presence of pebbly orange or peau d’orange appearance of retina temporal to macula (yellow circle).

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Angioid streaks are the most common eye findings in pseudoxanthoma elasticum and have been reported in 59–87% of the cases. They are asymptomatic, but when it extends into the foveola, it leads to loss of visual acuity. It can also cause irreversible vision loss due to rupture of the Bruch’s membrane, subretinal hemorrhages, and macular neovascularization.^[1] This case highlights that ophthalmological examination is essential for patients without ocular symptoms and counseling about systemic complications and regular follow-up.