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<span>Pseudoxanthoma elasticum</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum/</span>
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<article>
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<h1>Pseudoxanthoma elasticum</h1>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.</p><p>In PXE, 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 PXE 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 <a class="image-modal" data-alt="Layers of cells that make up the retina, including the choroid, pigment epithelium, and rods and cones." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000Z4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Z4" data-sourceurl="" data-title="Structure of the retina" href="https://medlineplus.gov/images/PX0000Z4_PRESENTATION.jpeg" id="PX0000Z4_1" title="Show image">retina<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (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.</p><p>Mineralization of the blood vessels that carry blood from the heart to the rest of the body (<a class="image-modal" data-alt="The outer, middle, and inner layers of the artery wall." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LA" data-sourceurl="https://www.nlm.nih.gov/" data-title="Layers of the artery wall" href="https://medlineplus.gov/images/PX0002LA_PRESENTATION.jpeg" id="PX0002LA_2" title="Show image">arteries<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (<a class="image-modal" data-alt="Inset shows the progression of plaque buildup in arteries of the heart, starting with a healthy artery, followed by atheroma, fibroatheroma, and finally thrombosis." data-caption="" data-credit="BlueRingMedia/Shutterstock.com" data-filepath="images/PX00010W_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00010W" data-sourceurl="" data-title="Process of arteriosclerosis" href="https://medlineplus.gov/images/PX00010W_PRESENTATION.jpeg" id="PX00010W_3" title="Show image">arteriosclerosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) or a condition called claudication that is characterized by 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.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17333" href="https://medlineplus.gov/genetics/gene/abcc6/">ABCC6</a></i> gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium and other minerals in the body. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues.</p><p>Mutations in the <i>ABCC6</i> gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to PXE. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium and other minerals accumulate in elastic fibers of the skin, eyes, blood vessels and other tissues affected by PXE. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium and other minerals characteristic of PXE.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Pseudoxanthoma elasticum</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/abcc6/">ABCC6</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>PXE is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> 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.</p><p>In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder and the mutation is typically inherited from one affected parent. In these cases of PXE, however, the parent without apparent symptoms has an <i><a data-pid="17333" href="https://medlineplus.gov/genetics/gene/abcc6/">ABCC6</a></i> gene mutation. The affected offspring inherits two altered genes, one from each parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Groenblad-Strandberg syndrome</li> <li>Gronblad-Strandberg syndrome</li> <li>PXE</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0033847/" target="TheNewWin">Genetic Testing Registry: Pseudoxanthoma elasticum</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/9643/index" target="TheNewWin">Pseudoxanthoma elasticum</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Pseudoxanthoma elasticum%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/177850" target="TheNewWin">PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE</a></li>
<li><a href="https://omim.org/entry/264800" target="TheNewWin">PSEUDOXANTHOMA ELASTICUM; PXE</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Pseudoxanthoma+Elasticum%5BMAJR%5D%29+AND+%28pseudoxanthoma+elasticum%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+720+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004
Jul;51(1 Suppl):S13-4. doi: 10.1016/j.jaad.2004.01.015. No abstract available.
<a href="https://pubmed.ncbi.nlm.nih.gov/15243491" target="TheNewWin">Citation on PubMed</a></li>
<li>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. doi:
10.1136/jmg.2004.030171. Epub 2005 May 13. <a href="https://pubmed.ncbi.nlm.nih.gov/15894595" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735972/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Dabisch-Ruthe M, Kuzaj P, Gotting C, Knabbe C, Hendig D. Pyrophosphates as a
major inhibitor of matrix calcification in Pseudoxanthoma elasticum. J Dermatol
Sci. 2014 Aug;75(2):109-20. doi: 10.1016/j.jdermsci.2014.04.015. Epub 2014 May
17. <a href="https://pubmed.ncbi.nlm.nih.gov/24907773" target="TheNewWin">Citation on PubMed</a></li>
<li>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. doi: 10.1038/sj.ejhg.5200953. <a href="https://pubmed.ncbi.nlm.nih.gov/12673275" target="TheNewWin">Citation on PubMed</a></li>
<li>Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Varadi A, Plomp A, Bergen
AA, Oude Elferink RP, Borst P, van de Wetering K. ABCC6-mediated ATP secretion by
the liver is the main source of the mineralization inhibitor inorganic
pyrophosphate in the systemic circulation-brief report. Arterioscler Thromb Vasc
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<li>Jansen RS, Kucukosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen
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