Abstract

Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare multisystemic autosomal recessive connective tissue disorder. In PXE patients, mutations in the ABCC6 gene lead to ectopic deposition of calcium salts and fragmentation of elastic fibers. Dystrophic calcification results in skin manifestations, followed by severe ocular and cardiovascular complications. The aim of this study was to introduce a novel non-invasive technique for visualization and quantification of the severity of skin lesions of PXE patients.

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