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Am J Med Genet A. 2010 Apr;152A(4):1049-58. doi: 10.1002/ajmg.a.33329.

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.

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Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.


Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the ABCC6 gene and is transmitted in an autosomal recessive fashion. In 1994 a new classification system for PXE was published as the result of a consensus conference. Since then the ABCC6 gene has been discovered. We propose that there is a need for a classification system incorporating all relevant systemic symptoms and signs, based on standardized clinical, histological, and molecular biological examination techniques. We re-evaluated the histopathologic PXE signs and propose a classification system with unambiguous criteria leading to a consistent diagnosis of definitive, probable, or possible PXE world-wide. We put this proposed classification forward to encourage further debate on the diagnosis of this multi-organ disorder.

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