Pseudoxanthoma Elasticum (cont.)
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- What is pseudoxanthoma elasticum?
- How is pseudoxanthoma elasticum inherited?
- What are symptoms of pseudoxanthoma elasticum?
- What is the treatment for patients with pseudoxanthoma elasticum?
- Pseudoxanthoma Elasticum At A Glance
How is pseudoxanthoma elasticum inherited?
PXE is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. Identification of the gene responsible for PXE can facilitate the determination of the exact patterns of inheritance. Pseudoxanthoma elasticum is an inherited disorder of elastin.
What are symptoms of pseudoxanthoma elasticum?
PXE typically causes yellow-white small raised areas in the skin folds, often appearing in the second or third decades of life. These skin abnormalities frequently appear on the neck, armpits, and other areas that bend a great deal (referred to as flexure areas). The face is not affected by PXE. The doctor can often see abnormalities in the back of the eye (retinae) called angioid streaks, which are tiny breaks in the elastin-filled tissue there. These eye abnormalities can lead to blindness.
Other areas that can be affected in PXE include the heart which can be affected by atherosclerosis and mitral valve prolapse. Small blood vessels are abnormally fragile in patients with PXE because the blood vessel walls contain elastin and are weakened. This can lead to abnormal bleeding in such areas as the bowel and, very rarely, the uterus. Impairment of circulation to the legs can lead to pains in the legs while walking (claudication).
What is the treatment for patients with pseudoxanthoma elasticum?
There is no cure for PXE. Treatment of patients with PXE involves monitoring organ function and consequences of the effects of the weakened elastin fibers in the body as well as measures to prevent injury and promote overall health.
- Pseudoxanthoma elasticum (PXE) is a rare disorder of degeneration of the elastic fibers.
- PXE is inherited from the parents.
- PXE typically causes yellow-white small raised areas in the skin folds (flexure areas).
- PXE can affect areas of the body other than the skin.
- Treatment of PXE involves monitoring by the doctor and measures to prevent injury and promote overall health.
For further information about Pseudoxanthoma Elasticum, please visit the following site: PXE International: Pseudoxanthoma Elasticum.
Last Editorial Review: 11/7/2007
http://www.medicinenet.com/pseudoxanthoma_elasticum/article.htm
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