Pseudoxanthoma elasticum (PXE) is a relatively rare heritable disorder affecting the elastic fibers of the skin, eyes and cardiovascular system. The affected organs become progressively calcified.

Etiology

 mutations in the MRP6/ABCC6 gene, a member of the ABC transporter family, expressed primarily in the liver and the kidneys.

References

 Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?Trends Mol Med. 2001 Jan;7(1):13-7. PMID: #11427982#