Current researches have confirmed that the pathogenesis of PXE is associated with ABCC6 gene mutations, which are located on the short arm of chromosome 16 (16p13.1) and consist of 31 exons encoding a transmembrane transporter protein of 1503 amino acids (ABCC6 protein) [16]. This evidence concerns the gene ABCC6 and autosomal recessive inherited pseudoxanthoma elasticum.