Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1. PXE is transmitted according either to an autosomal dominant mode or to an autosomal recessive one. Mutations in the ABCC6 gene on chromosome 16p13.1 have recently been identified causing PXE. The elastic fibers slowly become mineralized mainly in the skin, the eyes, and the cardiovascular system. PXE is a multisystem disease that includes a spectrum of clinical manifestations affecting the skin, the eye or the cardiovascular system as well as other tissues. It can be responsible for severe and life threatening complications. Skin changes are usually the first manifestations and begin in early childhood. The vital prognosis of PXE depends on the severity of the cardiovascular lesions that could be responsible for sudden death in children and young adults.