Abstract
Pseudoxanthoma elasticum (PXE, Gronblad-Strandberg syndrome) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene on the 16 chromosome. The lack of functional protein ABCC6 leads to ectopic mineralization, which is more evident in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE is estimated at 1 in 100,000 to 1 in 25,000 of the general population, with a slight predominance of women. Main features: skin lesion—100% (skin is senile and sagging), retinal involvement—100% (Bruch’s membrane calcification, subretinal neovascularization with bleeding can lead to blindness), vascular lesion—60% (lameness, minor strokes, angina pectoris, myocardial infarction), gastrointestinal bleeding—10% (more often in the upper sections).KeywordsPseudoxanthoma elasticumPXEGronblad-Strandberg syndromeProtein ABCC6Bruch’s membraneAngioid streaks
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
