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Disease Profile

Pseudoxanthoma elasticum

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PXE; Gronblad Strandberg syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

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]

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.

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 thorax morphology
Abnormality of the chest
0000765
Abnormal thrombocyte morphology
Platelet abnormalities
0001872
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
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
Vascular dilatation
Wider than typical opening or gap
0002617
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
Retinal peau d'orange
0033027
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
White oral mucosal macule
0033026

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]

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

    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 surgeryvascular 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]

    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

      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

        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.

          References

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

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