Pseudoxanthoma elasticum: Progress in research toward treatment: Summary of the 2012 PXE international research meeting

摘要

Pseudoxanthoma eiasticum (PXE) is a multisystem disorder manifesting primarily with clinical findings in the skin, the eyes, and the cardiovascular system, with considerable morbidity and occasional mortality (Neldner, 1988; Uitto et ai, 2010). The precise prevalence of PXE is currently unknown, but it is clearly a rare disease. Nevertheless, the prevalence has been suggested to be ~1:50,000, which would imply that there are ~7,000 affected individuals in the United States and as many as 150,000 in the world assuming the same global prevalence (Uitto, 2012). PXE is inherited in an autosomal recessive manner caused by mutations in the ABCC6 gene that encodes ATP-Binding Cassette, family C, number 6 protein, ABCC6.