Pseudoxanthoma Elasticum (PXE) – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033

Pseudoxanthoma elasticum (PXE) arises from mutations in the ABCC6 gene and is a hereditary metabolic disorder. It is characterized by the gradual calcification and breakage of elastic fibers in the skin, retina, and arterial walls. Typically, this condition manifests during adolescence or young adulthood, but it can emerge at any stage of life. The initial clinical indication is nearly always the appearance of small yellow papules on the back of the neck, sides of the neck, and in areas where the skin flexes. In some individuals, PXE may be confined to a single organ (skin, eyes, or blood vessels); in others, it can affect two or all three of these organs. Although cardiac issues like angina pectoris and myocardial infarction are relatively uncommon, they require thorough examination when present. Most PXE cases stem from two pathogenic variations in the ABCC6 gene, located at 16p13.11. In rare instances, patients displaying clinical features resembling PXE may possess pathogenic ...