Pseudoxanthoma elasticum

Gronblad-Strandberg Syndrome; PXE - Pseudoxanthoma elasticum

Pseudoxanthoma Elasticum (PXE) is a genetic disease that is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16. PXE causes mineralization of some elastic fibers. The most common problems arise in the skin and eyes. Usually, PXE affects skin first. Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axillae (armpit), groin, and flexural creases (Gheduzzi et al. 2003). Skin may become lax and redundant. PXE first affects ...