The prevalence of the autosomal recessive disease PXE is estimated to be between 1∶25.000 and 1∶100.000 [4], and to date up to 350 ABCC6 mutations were described [7] with p.R1141X (20–30%) and c.EX23_EX29del (5–15%) being the most frequent in European PXE patients [8]. The gene discussed is ABCC6; the disease is Pseudoxanthoma elasticum.