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Pseudoxanthoma elasticum

Reviewed May 2012

What is pseudoxanthoma elasticum?

Pseudoxanthoma elasticum is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body.

Mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with pseudoxanthoma elasticum may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.

Mineralization of the blood vessels that carry blood from the heart to the rest body (arteries) may cause other signs and symptoms of pseudoxanthoma elasticum. People with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that causes cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.

How common is pseudoxanthoma elasticum?

The prevalence of pseudoxanthoma elasticum is unknown. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.

What genes are related to pseudoxanthoma elasticum?

Mutations in the ABCC6 gene cause pseudoxanthoma elasticum. Little is known about the function of this gene. It provides instructions for making a protein called multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein), which is found primarily in cells of the kidney and liver. This protein is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein, which may impair the transport of particular substances into the blood for distribution to other parts of the body. It is unclear how ABCC6 gene mutations lead to the mineralization of elastic fibers and the characteristic features of pseudoxanthoma elasticum.

Related Gene(s)

Changes in this gene are associated with pseudoxanthoma elasticum.

  • ABCC6

How do people inherit pseudoxanthoma elasticum?

Pseudoxanthoma elasticum is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation is called pseudodominance because it resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder. Such cases of pseudoxanthoma elasticum, however, are actually autosomal recessive because the normal-appearing parent has an ABCC6 gene mutation. The affected offspring inherits two altered genes, one from each parent.

Where can I find information about diagnosis or management of pseudoxanthoma elasticum?

These resources address the diagnosis or management of pseudoxanthoma elasticum and may include treatment providers.

  • Gene Review: Pseudoxanthoma Elasticum (http://www.ncbi.nlm.nih.gov/books/NBK1113/)
  • Genetic Testing Registry: Pseudoxanthoma elasticum (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0033847)

You might also find information on the diagnosis or management of pseudoxanthoma elasticum in Educational resources (http://www.ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about pseudoxanthoma elasticum?

You may find the following resources about pseudoxanthoma elasticum helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Health Topic: Connective Tissue Disorders (http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html)
    • Health Topic: Vascular Diseases (http://www.nlm.nih.gov/medlineplus/vasculardiseases.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/9643/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Arthritis and Musculoskeletal and Skin Diseases: Heritable Disorders of Connective Tissue (http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp)

  • Educational resources - Information pages

    • Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=488)
    • Merck Manual Home Edition for Patients and Caregivers (http://www.merckmanuals.com/home/childrens_health_issues/hereditary_connective_tissue_disorders/pseudoxanthoma_elasticum.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=758)
    • University of Michigan Kellogg Eye Center (http://www.kellogg.umich.edu/theeyeshaveit/congenital/angioid-streaks.html)

  • Patient support - For patients and families

    • Family Village (http://www.familyvillage.wisc.edu/lib_pe.htm)
    • National Association for Pseudoxanthoma Elasticum (NAPE) (http://www.pxenape.org/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract)
    • PXE International (http://www.pxe.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1113/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Pseudoxanthoma elasticum (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0033847)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22pseudoxanthoma%20elasticum%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Pseudoxanthoma%20Elasticum%5BMAJR%5D)%20AND%20(pseudoxanthoma%20elasticum%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED (http://omim.org/entry/177850)
    • PSEUDOXANTHOMA ELASTICUM (http://omim.org/entry/264800)

What other names do people use for pseudoxanthoma elasticum?

  • Groenblad-Strandberg syndrome
  • Gronblad-Strandberg syndrome
  • PXE

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about pseudoxanthoma elasticum?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding pseudoxanthoma elasticum?

angioid streaks ; arteries ; arteriosclerosis ; autosomal ; autosomal dominant ; autosomal recessive ; calcium ; cell ; cell membrane ; claudication ; connective tissue ; digestive ; elastic ; gene ; inheritance ; joint ; kidney ; mutation ; offspring ; prevalence ; protein ; pseudodominance ; recessive ; retina ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15243491?dopt=Abstract)
  • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15894595?dopt=Abstract)
  • Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Götting C. Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem. 2006 Feb;52(2):227-34. Epub 2005 Dec 29. (http://www.ncbi.nlm.nih.gov/pubmed/16384891?dopt=Abstract)
  • Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet. 2003 Mar;11(3):215-24. (http://www.ncbi.nlm.nih.gov/pubmed/12673275?dopt=Abstract)
  • Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12850230?dopt=Abstract)
  • Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2005 Jul;90(7):754-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15970621?dopt=Abstract)
  • Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413. Am J Hum Genet 2002 Aug;71(2):448. (http://www.ncbi.nlm.nih.gov/pubmed/11536079?dopt=Abstract)
  • Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zäch S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat. 2005 Sep;26(3):235-48. (http://www.ncbi.nlm.nih.gov/pubmed/16086317?dopt=Abstract)
  • Plomp AS, Hu X, de Jong PT, Bergen AA. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet A. 2004 May 1;126A(4):403-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15098239?dopt=Abstract)
  • Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006 Apr;126(4):782-6. (http://www.ncbi.nlm.nih.gov/pubmed/16410789?dopt=Abstract)
  • Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug;10(4):221-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11493310?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2012
Published: May 20, 2013