Pseudoxanthoma Elasticum: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Pseudoxanthoma Elasticum?
A primary care doctor usually coordinates care. An ophthalmologist monitors the retina, and some people also see a dermatologist or cardiologist. Because the condition is rare, care often involves a team. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Pseudoxanthoma elasticum is a rare genetic condition affecting elastic tissue, the stretchy material inside skin, blood vessels, and the eye. That tissue becomes stiff and calcified, meaning calcium builds up in it. The skin may develop small yellowish bumps, blood vessels may narrow, and the eye can be damaged.
Symptoms
The most visible sign is on the skin: small yellowish bumps in patches, often on the neck, inside the elbows, behind the knees, or around the belly button. Eye problems often show up later, with dark lines in the retina and loss of central vision in some people.
Causes and who gets it
It is caused by changes in a gene called ABCC6. A person usually needs to inherit one changed copy from each parent; carriers with only one changed copy typically have no symptoms. It affects about 1 in 25,000 to 100,000 people, according to the NIH Genetic and Rare Diseases Information Center.
How doctors diagnose it
A doctor will examine the skin and ask about family history. A skin biopsy can confirm the diagnosis. An eye doctor will dilate the pupils and look at the retina. Genetic testing can also confirm it, and imaging may check blood flow.
Treatment
There is no cure. Treatment focuses on protecting the eyes and blood vessels and catching problems early. Doctors recommend keeping blood pressure, cholesterol, and weight in a healthy range, avoiding blows to the head or eyes, and having regular eye exams.
When to see a doctor
See a doctor if you notice yellowish bumps on your skin that do not go away, especially if a family member has the condition. Sudden vision changes, chest pain, or belly pain also deserve prompt attention. Anyone diagnosed should have regular checkups, because early changes often cause no symptoms.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can handle routine monitoring and refer to specialists when needed.
Common questions
Is pseudoxanthoma elasticum life threatening?
It can lead to serious problems. These include bleeding in the eye, heart disease, or reduced blood flow to the stomach or brain. With regular monitoring and good management of blood vessel risk factors, many people live full lives. Outcomes differ from person to person.
Can I pass this condition to my children?
Yes, it is possible. If both parents carry one changed copy of the ABCC6 gene, each child has a chance of having the condition. Genetic testing can help families understand the risks. Genetic counseling can also help. This is guidance from a specialist about inherited conditions.
Will my skin return to normal?
The skin changes usually do not go away on their own. Some treatments can improve the look of the skin, but results vary. Many people manage the appearance with makeup or clothing choices.
How often should I have my eyes checked?
Doctors commonly recommend at least yearly eye exams for people with this condition. Your eye doctor may suggest a different schedule based on what they find. Ask your care team what is right for you.
Sources
- MedlinePlus Genetics - Pseudoxanthoma elasticum
- NIH Genetic and Rare Diseases Information Center - Autosomal recessive inherited pseudoxanthoma elasticum
- National Organization for Rare Disorders (NORD) - Inherited Pseudoxanthoma Elasticum
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
