ABSTRACT NUMBER: ESOC2026A93 PSEUDOXANTHOMA ELASTICUM: A RARE CAUSE OF CEREBROVASCULAR DISEASE – CASE SERIES

Abstract Background and aims Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder with greater expressivity in women. It is characterized by yellowish papules on the neck and flexural areas, angioid streaks in the retina, and progressive calcification of elastic fibers in medium- and small-caliber arteries. Although vascular complications are well described, cerebrovascular involvement remains uncommon and often underrecognized. Awareness of its potential neurovascular manifestations is essential for timely diagnosis and management. Methods We describe three female patients aged 37–44 years with cerebrovascular manifestations and histopathological confirmation of PXE through skin biopsy. Clinical data, vascular risk factors, and neuroimaging studies were retrospectively reviewed to identify shared patterns and outcomes. Results The median age was 40 years. Two patients presented with cerebrovascular events—one ischemic stroke and one transient ischemic attack—while the third was asymptomatic. Brain MRI demonstrated bihemispheric cortical and deep ischemic lesions in one patient, and all showed stenosis and wall irregularities in medium and small cerebral arteries, including anterior, posterior, and distal middle cerebral arteries. In two cases, the cerebrovascular event preceded the dermatological diagnosis. None of the patients had a family history of PXE. Management consisted of antiplatelet therapy, lipid-lowering agents, and lifestyle modification. No patient required vascular intervention during follow-up, and all remained clinically stable. Conclusions This case series underscores pseudoxanthoma elasticum as an uncommon but important cause of cerebrovascular disease in young adults. Recognizing its characteristic neurovascular imaging features, together with dermatological and histopathological findings, may facilitate earlier diagnosis and reduce the risk of recurrent ischemic events. Conflict of interest Hayar El Mouhajir: Nothing to disclose, Ana Dominguez Mayoral: nothing to disclose, Macarena Gonzalez Campos: nothing to disclose