Pseudoxanthoma elasticum is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. It 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.
There are often see abnormalities in the retina 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 ([[claudicat 428 ion]]).
Inheritance: ausomal recessive and autosomal dominant
Results from our forum
... (PKU) * Polycystic Kidney Disease * Prader-Willi Syndrome * Progeria * Pseudoxanthoma Elasticum * Ptosis * Rentinitis Pigmentosa * Scheie Syndrome * Schizophrenia * Severe Combined ...
See entire post