PXE

Also known as

  • psydoelasmysoma

Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes select elastic tissue in the body to become mineralized, that is, calcium and other minerals are deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

Condition details

PXE results in a variety of signs and symptoms. The number, type, and severity of signs of PXE vary from person to person. Certain effects of PXE can cause serious medical problems while others have less impact. The effects of PXE may include: skin changes; changes in the retina of the eye that may result in significant loss of central vision; changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms and legs or even the heart and brain; changes in the gastrointestinal system that may lead to bleeding in the stomach or intestines.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Affected genes identified to date

  • ABCC6

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

unsure

How many are affected?

1 in 25,000 to 1 in 100,000

Support groups and organisations

PXE International
usa
Tel
Facebook

Known experts

No experts found

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