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Pseudoxanthoma elasticum

Reviewed August 2007

What is pseudoxanthoma elasticum?

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

Calcification can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. As a result, people with pseudoxanthoma elasticum may have yellowish bumps called papules on their necks, underarms, and elsewhere on the skin. They also may have changes in the eye called angioid streaks, which occur in the light-sensitive layer of cells at the back of the eye (the retina). Angioid streaks can lead to bleeding and scarring of the retina, which can cause vision loss.

Calcification of elastic fibers in the arteries can cause decreased blood flow to the arms and legs, resulting in cramping or pain with exercise (claudication). If the coronary arteries in the heart are affected, calcification can result in chest pain on exertion (angina) or rarely, a heart attack. Bleeding from blood vessels in the digestive tract may also occur.

How common is pseudoxanthoma elasticum?

The estimated prevalence of pseudoxanthoma elasticum ranges from 1 in 25,000 to 1 in 100,000 individuals. The true prevalence is probably higher because mildly affected people are often not diagnosed. For reasons that are unknown, 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 the ABCC6 gene. It provides instructions for making a protein that transports certain substances across the cell membrane. Mutations in the ABCC6 gene lead to an absent or nonfunctional protein, which may impair the transport of substances and disrupt normal cell activities. It is unclear how ABCC6 mutations lead to the calcification of elastic fibers and the characteristic features of pseudoxanthoma elasticum.

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 carries an ABCC6 mutation. The affected offspring inherits two altered genes, one from each parent.

Where can I find information about treatment for pseudoxanthoma elasticum?

You may find information on treatment or management of pseudoxanthoma elasticum or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

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: Skin Conditions (http://www.nlm.nih.gov/medlineplus/skinconditions.html)
    • Health Topic: Vascular Diseases (http://www.nlm.nih.gov/medlineplus/vasculardiseases.html)
  • 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/component/option,com_mpower/diseaseID,488/)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec23/ch279/ch279d.html)
    • New York Online Access to Health (NOAH) (http://www.noah-health.org/en/genetic/conditions/pxe.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/search/rdbdetail_abstract.html?disname=Pseudoxanthoma+Elasticum+(PXE))
    • PXE International (http://www.pxe.org/about/everything.html)

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/bookshelf/br.fcgi?book=gene&part=pxe)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2407)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22pseudoxanthoma+elasticum%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Pseudoxanthoma+Elasticum[MAJR])+AND+(pseudoxanthoma+elasticum[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=720+Days)
  • OMIM - Genetic disorder catalog
    • OMIM topic: Pseudoxanthoma elasticum, autosomal dominant (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177850)
    • OMIM topic: Pseudoxanthoma elasticum, autosomal recessive (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264800)

What other names do people use for pseudoxanthoma elasticum?

  • Gronblad-Strandberg Syndrome
  • PXE

See 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?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding pseudoxanthoma elasticum?

angina ; angioid streaks ; artery ; autosomal ; autosomal dominant ; autosomal recessive ; calcification ; calcium ; cell ; cell membrane ; claudication ; connective tissue ; coronary ; coronary artery ; digestive ; elastic ; gene ; heart attack ; inheritance ; mineral ; mutation ; offspring ; papule ; prevalence ; protein ; pseudodominance ; recessive ; retina ; sign ; symptom ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15243491)
  • 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 May 13; [Epub ahead of print]. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15894595)
  • Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Gotting 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16384891)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12673275)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12850230)
  • Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2005 Jul;90(7):754-6. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15970621)
  • Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11536079)
  • Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16086317)
  • Plomp AS, Hu X, de Jong PT, Bergen AA. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet. 2004 May 1;126A(4):403-12. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15098239)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16410789)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11493310)

 

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: August 2007
Published: May 4, 2009