Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25000 to 1/50000) is an autosomal recessive multisystem disease resulting from mutations in ABCC6 that encodes an ATP-binding cassette transporter mainly expressed in the liver and kidneys [5], [6]. The gene discussed is ABCA4; the disease is Pseudoxanthoma elasticum.