Pseudoxanthoma Elasticum (PXE)

Overview

Pseudoxanthoma elasticum, or PXE, is a rare inherited disorder in which the body's elastic fibers gradually become mineralized, meaning calcium and other minerals build up in them and make them brittle and fragmented. Elastic fibers are found in the skin, the eyes, and the walls of blood vessels, so PXE tends to affect these areas over time.

The condition usually progresses slowly, often becoming noticeable in adolescence or early adulthood with characteristic skin changes. Its most important effects involve the eyes, where it can threaten central vision, and the blood vessels, where it can affect circulation. While there is no cure, recognizing PXE allows monitoring and steps to protect vision and cardiovascular health.

Symptoms

Features develop gradually and most often involve three areas:

• Skin: Small yellowish bumps that can merge into a cobblestone or plucked-chicken appearance, typically on the neck, underarms, and other flexible areas; the skin may become loose or lax there.
• Eyes: Changes in the back of the eye that can cause bleeding and lead to loss of central vision, while side vision is usually preserved.
• Blood vessels: Reduced circulation, which can cause leg cramps with walking, and an increased tendency to bleeding in the digestive tract.

Many people first notice the skin changes, while eye and vascular effects may appear later.

Causes

PXE is caused by inherited changes in a gene involved in preventing abnormal mineral buildup in tissues:

• Genetic mutation: Changes in the responsible gene allow minerals such as calcium to deposit in elastic fibers, damaging them.
• Inheritance: PXE is usually inherited in a recessive pattern, meaning a child typically inherits a changed gene from both parents.

The resulting mineralization weakens and fragments elastic tissue in the skin, eyes, and arteries, producing the condition's characteristic problems.

Risk Factors

• Having two affected gene copies, typically inherited from both parents
• A family history of PXE
• Additional cardiovascular risk factors such as smoking, which can worsen vascular effects

Diagnosis

Diagnosis is based on the characteristic findings, confirmed by testing:

• Skin examination: Recognizing the typical yellowish bumps in flexible areas.
• Skin biopsy: A small sample can show mineralized, abnormal elastic fibers under the microscope.
• Eye examination: A detailed exam of the back of the eye looks for the changes characteristic of PXE.
• Genetic testing: Can confirm the diagnosis and assist family counseling.
• Vascular assessment: Evaluating circulation and cardiovascular health when needed.

Treatment

There is no cure, so management focuses on monitoring and protecting the affected organs:

• Eye care: Regular eye exams and prompt treatment of bleeding at the back of the eye; certain injections can be used to treat new blood vessel growth that threatens vision.
• Cardiovascular care: Managing blood pressure, cholesterol, and other risk factors, and not smoking, to protect blood vessels.
• Monitoring for bleeding: Awareness of and prompt care for digestive tract bleeding.
• Skin treatment: Cosmetic procedures for skin changes if desired.
• Genetic counseling: For affected individuals and families.

People with PXE are often advised to be cautious with medicines that increase bleeding risk; this should be discussed with a clinician.

Prevention

• PXE itself cannot be prevented, but its complications can be reduced
• Avoid smoking and manage cardiovascular risk factors
• Attend regular eye examinations to catch vision-threatening changes early
• Protect the eyes from injury
• Discuss bleeding-risk medications with your clinician
• Use genetic counseling to understand inheritance

When to See a Doctor

People with PXE need regular eye and cardiovascular monitoring. Seek prompt or emergency care if you notice:

• Sudden changes in central vision, distortion, dark spots, or vision loss
• Signs of digestive bleeding, such as black stools or vomiting blood
• New leg pain with walking that eases at rest, suggesting reduced circulation
• Chest pain or other symptoms of a cardiovascular problem

Also see a doctor if you develop the characteristic skin changes or have a family history of PXE.

Related Topics

Frequently Asked Questions

References

1. MedlinePlus Genetics, U.S. National Library of Medicine. Pseudoxanthoma elasticum.
2. National Organization for Rare Disorders (NORD).
3. American Academy of Ophthalmology.
4. Genetic and Rare Diseases Information Center (GARD).