Pseudoxanthoma elasticum

Title

Other Names:

PXE; Gronblad Strandberg syndrome

Categories:

Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases; Nervous System Diseases; Skin Diseases See More

Summary Summary

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

Symptoms Symptoms

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		0002172
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Renovascular hypertension		0100817
Restrictive cardiomyopathy		0001723
Scoliosis	Abnormal curving of the spine	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
Percent of people who have these symptoms is not available through HPO
Abnormality of the mouth	Abnormal mouth	0000153
Accelerated atherosclerosis		0004943
Autosomal recessive inheritance		0000007
Choroidal neovascularization		0011506
Civatte bodies		0025115
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Drusen		0011510
Hypermelanotic macule	Hyperpigmented spots	0001034
Intermittent claudication		0004417
Macular degeneration		0000608
Mitral stenosis		0001718
Peau d'orange		0025533
Reduced visual acuity	Decreased clarity of vision	0007663
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Stroke		0001297

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Treatment Treatment

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations Organizations

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

Hypermobility Syndromes Association (HMSA)
49 Greek Street
London, WD1 4EG United Kingdom
Telephone: 033 3011 6388
E-mail: http://hypermobility.org/contact-us/
Website: http://hypermobility.org/
PXE International
4301 Connecticut Avenue NW, Suite 404
Washington, DC 20008-2369
Telephone: 202.362.9599 (main office)
Fax: 202.966.8553
E-mail: info@pxe.org
Website: http://www.pxe.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

Genetics Home Reference (GHR) contains information on Pseudoxanthoma elasticum. This website is maintained by the National Library of Medicine.
A description of PXE including its signs, effects and medical care can be found in the PXE International's General Bulletin.

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.