Biallelic pathogenic variants in ABCC6 are known to cause pseudoxanthoma elasticum (PXE), an autosomal recessive disorder in which the calcification and fragmentation of elastic fibers results in skin (papular lesions and increased skin laxity), eye (angioid streaks, choroidal neovascularization and hemorrhage) and cardiovascular symptoms (peripheral artery disease and stroke), though the severity is highly variable between patients [4,5,6]. Here, ABCC6 is linked to Pseudoxanthoma elasticum.