Dermatologic Clues to Multisystem Disease: A Case Report of Pseudoxanthoma Elasticum Presenting with Angioid Streaks and Early Vascular Symptoms

We report a case of pseudoxanthoma elasticum (PXE) diagnosed in a 28-year-old woman who presented with dermatologic findings that served as the diagnostic entry point. PXE is a rare autosomal recessive connective tissue disorder marked by progressive calcification and fragmentation of elastic fibers, primarily affecting the skin, eyes, and cardiovascular system. Clinically, PXE commonly manifests as yellowish papules in flexural regions, progressive visual impairment due to angioid streaks and choroidal neovascularization, and early-onset vascular complications. With the increasing availability of targeted retinal therapies and the investigation of emerging calcification-modifying strategies, earlier recognition of PXE is increasingly important clinically. The patient presented a history of progressively worsening yellow papules on the lateral aspects of her neck, gradually declining vision, and exertional leg pain. Ophthalmologic evaluation confirmed angioid streaks and peau d’orange retinal appearance, while cardiovascular assessment was unremarkable. The patient was diagnosed with PXE based on the combination of characteristic cutaneous lesions, ocular findings, and a positive family history. She was referred for multidisciplinary follow-up and advised on lifestyle modification, visual monitoring and cosmetic options for aesthetic concerns. Should common ocular complications such as choroidal neovascularization develop, the patient would undergo prompt anti-VEGF therapy to preserve visual function. This case illustrates how coordinated dermatology-ophthalmology-vascular assessment can be triggered by recognition of characteristic skin findings, supporting a cross-specialty screening model in suspected PXE. This case also emphasizes the importance of family screening once PXE is suspected, as subtle cutaneous findings in relatives may represent an underrecognized disease.