Pseudoxanthoma elasticum: challenges of differential diagnosis. Case report of a young patient with an isolated skin lesion

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease, characterized by skin, retina and cardiovascular manifestations as a result of ectopic mineralization of elastic fibers of connective tissue. This is a case report of a 17-year-old patient with an isolated skin lesion and clinical and histological findings that are more typical of PXE. Due to the wide variability of phenotypic manifestations and the high risk of developing severe cardiac and ophthalmological complications, patients with suspected PXE diagnosis require careful follow-up even if genetic testing is negative and other diagnostic criteria are not fully met.

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