Researching recent literature on pseudoxanthoma elasticum (PXE)
Sharika Akhter, Thomas Georgas, Georgios Giannoukos
Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder, typically inherited in an autosomal recessive manner. It is also classed as a multisystem disorder as the disease involves the impairment of a number of organs and tissues. Literature is very limited in regards to the specific pathologically related histological/anatomical descriptions of certain affected tissues, especially cardiac tissues as well as the prevalence record of cardiovascular abnormalities in PXE patients. What this article aims to accomplish is to provide a detailed picture of the existing relevant literature on the field and discuss the prospects of discovering more about PXE. The article finishes with discussing how the human genome project is a perfect prospect to discovering more about PXE.