How Psesudoxanthoma Elasticum affects the eye
Pseudoxanthoma Elasticum is a rare genetic autosomal recessive disorder, caused by a mutation in the ABCC6 gene, the lack of functional ABCC6 protein leads to ectopic mineralization of abnormal accumulation of calcium/phosphate deposits, in which the dystrophic calcification most apparent in the elastic tissue, (calcification of the elastic fiber, specifically effecting the skin, eyes, blood vessels, cardiovascular system, gastrointestinal system) (1). The condition is characterised by loose connective tissue, distributed yellowish papules involving the neck, axillia, umbilicus, and groin, sometimes the mucus mucosa is involved, and the skin becomes loose and wrinkled, result of the shortened, fragmented, calcified elastic fibres(2). When Pseudaxanthoma Elasticum affects the eyes the changes usually appear years after the skin changes, as Angoid streaks, a result of breaks in the elastic Bruch membrane of the Retina and may result in severe injury of eye (in worst case it results in blindness)(2) . In the following discussion it will be shown how the genetic mutation in ABCC6 will affect the elastic tissue.
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The term Pseudoxanthoma Elasticum (PXE) was coined by the French dermatologist Ferdinand-Jean, due to its characteristic yellow tone of skin, it is a genetically determined autosomal recessive disorder involving the ABCC6 gene, the lack of functioning ABCC6 protein is mostly prominent on the elastic tissues, effecting their structure and thus and leaving them in a state of fragmented, loose elastic tissue, seen as small yellow papules on the nap and sides of neck, the skin becoming wrinkled and loose, and the elastic fibers are fragmented, usually involves various organs including the skin, eyes, cardiovascular system, and gastrointestinal tract, the clinical prevalence of Pseudoxanthoma Elasticum has been estimated at between 1 per 100,000 with slight preference to females, making Pseudoxanthoma Elasticum extremely rare, unfortunately there is no cure for this condition
