National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.  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.  A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin.  ABCC6 is the only gene known to be associated with this condition.  Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.[1]
Last updated: 8/16/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the cerebral vasculature
Abnormality of the cerebral blood vessels
0100659
Angioid streaks of the fundus 0001102
Arterial stenosis
Narrowing of an artery
0100545
Excessive wrinkled skin 0007392
Retinal hemorrhage
Retinal bleeding
0000573
Retinopathy
Noninflammatory retina disease
0000488
Skin rash 0000988
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ] 		0000474
30%-79% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Striae distensae
Stretch marks
0001065
5%-29% of people have these symptoms
Abnormal endocardium morphology 0004306
Abnormal thrombocyte morphology
Platelet abnormalities
0001872
Abnormality of the thorax
Abnormality of the chest
0000765
Acne 0001061
Angina pectoris 0001681
Atherosclerosis
Narrowing and hardening of arteries
0002621
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Dilatation
Wider than typical opening or gap
0002617
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Hypertension 0000822
Hypothyroidism
Underactive thyroid
0000821
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Metamorphopsia 0012508
Mitral valve prolapse 0001634
Multiple lipomas
Multiple fatty lumps
0001012
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Postural instability
Balance impairment
0002172
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Renovascular hypertension 0100817
Restrictive cardiomyopathy 0001723
Scoliosis 0002650
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Sudden cardiac death
Premature sudden cardiac death
0001645
Telangiectasia of the skin 0100585
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
1%-4% of people have these symptoms
Choroidal neovascularization 0011506
Civatte bodies 0025115
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
0001677
Cutis laxa
Loose and inelastic skin
0000973
Decreased DLCO 0045051
Intermittent claudication 0004417
Macular degeneration 0000608
Mitral stenosis 0001718
Reduced visual acuity
Decreased clarity of vision
0007663
Stroke 0001297
Weak pulse 0032553
Yellow papule 0025507
Percent of people who have these symptoms is not available through HPO
Accelerated atherosclerosis 0004943
Autosomal recessive inheritance 0000007
Optic disc drusen 0012426
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Last updated: 7/1/2020
When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene.  Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available.[1]  Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.[1]
Last updated: 8/16/2011

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Unfortunately, there is no cure for pseudoxanthoma elasticum.  Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders.  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.  Several therapies may be effective for slowing the reduction in vision in PXE.  Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.[1]
Last updated: 8/16/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Pseudoxanthoma elasticum. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Pseudoxanthoma elasticum. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Pseudoxanthoma elasticum:
    PXE Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudoxanthoma elasticum. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is it recommended to take an antibiotic or other medication before a dental procedure with pseudoxanthoma elasticum? See answer

  • My mother was diagnosed with pseudoxanthoma elasticum, but no one in the previous three generations of my father's family have been diagnosed with this condition.  Now I have a baby who seems to have lumps which look like pseudoxanthoma elasticum on his neck, but no one in the previous three generations of my husband's family have been diagnosed with this condition.  My questions are:
    1. How can I know whether or not my husband or I are unaffected carriers?  What type of blood test do I need to have?
    2. Several websites say that pseudoxanthoma elasticum is untreatable.  Is that true? Can the progression of this condition be slowed down or managed?
    3.  My baby was only 3-4 months old when I saw the yellow lumps on his neck, but I read that the average age for the onset of symptoms is in the teens.  Is it possible for a baby to show symptoms? See answer


  1. Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. June 12, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed 5/21/2015.