PMID: 31373454Aug 3, 2019Paper

Pseudoxanthoma elasticum revealed by choroidal neovascularization

Revue médicale de Liège
F MaraiteG Lepièce

Abstract

Pseudoxanthoma elasticum is a genetic disease caracterised by calcification and fragmentation of elastic fibers affecting primarily the skin, the eyes and the cardiovascular system. We report a case in which the diagnostic was delayed due to an atypical presentation, allowing us to discuss the clinical signs, especially ocular, as well as the diagnosis criteria of this rare pathology. There is no specific treatment to pseudoxanthoma elasticum. It is essential to diagnose it rapidly in order to avoid potentially dramatic systemic outcomes.

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