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.
Pseudoxanthoma elasticum (PXE) is a rare disorder involving 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.
What is pseudoxanthoma elasticum?
The connective tissues are the structural portions of the body
that essentially hold the body cells together. These tissues form a
framework or matrix for the body, and are composed of two major structural molecules, collagen and elastin. There are many different collagen protein types which vary in abundance depending on body area. Elastin is another protein which has the capability of stretching and returning to original length like a spring.
Pseudoxanthoma elasticum (PXE) is a rare disorder of degeneration
of the elastic fibers with tiny areas of calcification in the skin,
back of the eyes (retinae), and blood vessels. Interestingly, while
elastin is the major component of ligaments (tissues which attach
bone to bone), the ligaments are not apparently affected by PXE.
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
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.