Document Type

Article

Publication Title

Cureus

Abstract

Pseudoxanthoma elasticum (PXE) is a rare systemic disorder of elastic fibers. The most common manifestations include characteristic papules and ocular angioid streaks. Cardiovascular complications include peripheral arterial disease, hypertension, premature coronary artery disease, and cerebrovascular disease. These associations are secondary to dystrophic elastic fibers, resulting in the calcification of small- to medium-sized arteries. We present the case of a 22-year-old otherwise healthy female patient diagnosed with PXE following a biopsy of a neck lesion. Ophthalmologic evaluation revealed characteristic angioid streaks. The patient also reported early satiety and leg cramping, which prompted referral to gastroenterology and cardiology. Further investigation raised concern for median arcuate ligament syndrome (MALS), though the association with her PXE diagnosis remains unclear. This case highlights the importance of systematic evaluation, screening, and multidisciplinary management of cardiovascular manifestations in PXE.

First Page

87113

Last Page

87113

DOI

10.7759/cureus.87113

Publication Date

7-1-2025

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