Pseudoxanthoma elasticum (PXE) has an estimated prevalence of 1 case per 25,000-100,000. Current research supports a common (probably exclusive) autosomal recessive inheritance of pseudoxanthoma elasticum.
What is pseudoxanthoma elasticum?
Pseudoxanthoma elasticum (PXE) is an inherited disorder caused by mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium is deposited in the tissue.
How is Pseudoxanthoma Elasticum treated?
Treatment options for choroidal neovascularisation (CNV) of Retinal Pigment Epithelium (RPE) secondary to pseudoxanthoma elasticum include laser photocoagulation, transpupillary thermotherapy and photodynamic therapy, macular translocation surgery and anti-vascular endothelial growth factor (anti-VEGF) treatments (51).
Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.
Which carrier testing is best for Pseudoxanthoma elasticum (PXE)?
When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available.
What is the average age of onset of pseudoxanthoma elasticum (PXE)?
The average age of onset is 13 years; however, ages can vary between infancy and the seventh decade of life or older, with a peak in the number of new cases from ages 10-15 years. The prognosis of pseudoxanthoma elasticum (PXE) largely depends on the extent of extracutaneous organ involvement.
What are the treatment options for peripheral xanthomastoid encephalopathy (PXE)?
Several therapies may be effective for slowing the reduction in vision in PXE. Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs. [1] If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.
