askvity

What is Pixie Disease?

Published in Genetic Disorder 2 mins read

Pixie disease, more accurately known as pseudoxanthoma elasticum (PXE), is a condition where calcium and other minerals build up in the body's tissues, particularly those that are normally elastic. This accumulation primarily affects the skin, eyes, and blood vessels.

Understanding Pseudoxanthoma Elasticum (PXE)

Here's a detailed look at PXE, often called pixie disease:

How PXE Develops

  • Mineral Build-Up: PXE occurs when calcium and other minerals deposit in elastic tissues throughout the body. This calcification process hardens and damages these tissues.
  • Affected Tissues: The primary areas affected include the skin, blood vessels, and the retina of the eye.

Common Symptoms

Symptom Description
Skin Changes Small, yellowish bumps or papules, often on the neck, armpits, and knees. The skin may feel thicker and less elastic.
Vision Problems Changes in the retina can lead to vision loss. Often involves the formation of "angioid streaks".
Vascular Issues Arteries may become calcified, which can lead to issues like high blood pressure and problems with blood flow.

Areas Most Impacted:

  • Skin: The skin on the neck, armpits, and knees often shows the most obvious signs.
  • Eyes: The calcification process can affect the retina, leading to potential vision impairment.
  • Blood Vessels: Accumulation of minerals in arteries can cause various cardiovascular issues.

Practical Insights and Solutions

  • Early Diagnosis: Early diagnosis is vital to manage PXE effectively and prevent complications.
  • Regular Check-ups: Consistent medical evaluations, including vision checks, are essential.
  • Lifestyle Adjustments: Individuals may need to adjust their lifestyle based on the specific impact of PXE.

Treatment Options

There's no cure for PXE. Treatment focuses on managing the symptoms and preventing further complications. These can include:

  • Monitoring and controlling high blood pressure
  • Specific treatments for the eye issues if they arise
  • Lifestyle adjustments

In summary:

Pixie disease or Pseudoxanthoma elasticum is a disease causing abnormal mineral buildup in elastic body tissues, predominantly affecting the skin, eyes, and blood vessels. This results in skin changes, vision problems, and potential cardiovascular issues.

Related Articles