What are the main symptoms of PXE?
PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach.
Can Pseudoxanthoma Elasticum cause blindness?
Sometimes, these blood vessels leak and bleed. This bleeding results in the loss of central vision. While people with PXE may lose so much vision that they become legally blind, almost all people with PXE continue to have peripheral vision.
How rare is PXE?
Estimates of the incidence of PXE range from 1 in 100,000 people to 1 in 25,000. However, the true incidence of PXE is not known in any population. It is likely that many individuals with PXE have not been diagnosed, particularly people with mild signs of PXE or those whose signs are not typical.
Is Pseudoxanthoma Elasticum hereditary?
PXE is inherited in a recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
What are the clinical characteristics of pseudoxanthoma elasticum?
Clinical characteristics: Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin.
What are the signs and symptoms of appendicitis?
Standard treatment is surgical removal of the appendix. Signs and symptoms of appendicitis may include: Sudden pain that begins around your navel and often shifts to your lower right abdomen The site of your pain may vary, depending on your age and the position of your appendix.
What kind of Doctor do you see for Pseudoxanthoma elasticum?
A team of doctors in other specialties – including dermatology, cardiology, plastic surgery , vascular surgery, genetics, and nutrition – may also help with the management this condition. Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes.
Is there cure for Pseudoxanthoma elasticum ( PXE )?
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.