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Description

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.

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 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 of the body ( arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries ( arteriosclerosis) 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.

Frequency

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.

Causes

Mutations in the ABCC6 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.

Mutations in the ABCC6 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.

Inheritance

PXE 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 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 ABCC6 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.

Other Names for This Condition

Groenblad-Strandberg syndrome

Gronblad-Strandberg syndrome

PXE

Additional Information & Resources

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

References

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. Citation on PubMed

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. Citation on PubMed or Free article on PubMed Central

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. Citation on PubMed

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. Citation on PubMed

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 Biol. 2014 Sep;34(9):1985-9. doi: 10.1161/ATVBAHA.114.304017. Epub 2014 Jun 26. Citation on PubMed

Jansen RS, Kucukosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20206-11. doi: 10.1073/pnas.1319582110. Epub 2013 Nov 25. Citation on PubMed or Free article on PubMed Central

Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. Citation on PubMed or Free article on PubMed Central

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. doi: 10.1086/323704. Epub 2001 Aug 31. Erratum In: Am J Hum Genet 2001 Dec;69(6):1413. Am J Hum Genet 2002 Aug;71(2):448. Citation on PubMed or Free article on PubMed Central

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. doi: 10.1002/humu.20206. Citation on PubMed

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. doi: 10.1002/ajmg.a.20632. Citation on PubMed

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. doi: 10.1038/sj.jid.5700115. Citation on PubMed

Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug;10(4):221-8. doi: 10.1034/j.1600-0625.2001.100401.x. Citation on PubMed

Terry SF, Uitto J. Pseudoxanthoma Elasticum. 2001 Jun 5 [updated 2020 Jun 4]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1113/ Citation on PubMed

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Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Explore symptoms, inheritance, genetics of this condition.

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Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment

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Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and…

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The Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE) is a non-profit making charitable trust, founded in 1984 by Elspeth Lax and run entirely by unpaid volunteers. You can read about how PiXiE was founded and gain some insight into how it has grown.

The PXE support group aims to:

help, encourage and assist those with PXE and their family members

heighten the awareness of PXE amongst the medical community, support services and the general public

link members with each other for mutual support and exchange of ideas

provide information on the various aspects of PXE

provide copies of our newsletter, "PiXiE", containing medical articles and letters from members

hold meetings to which all members, their families and friends are invited.

You can join PiXiE by returning the online Membership Application form and a remittance of £10 by post.

If you would like further information on PXE and the support group or would like to make a donation towards running costs, please contact:

Elspeth Lax, 15 Mead Close, Marlow, Bucks, SL7 1HR, UK

tel 01628 476687 (international +44 1628 476687)
email elspeth@pxe.org.uk

The Pseudoxanthoma Elasticum Support Group is a registered charity: No 1055465

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PiXiE | Supporting sufferers from pseudoxanthoma elasticum

# data[].attributes.attachment_link.description
The Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE) is a non-profit making charitable trust, founded in 1984 by Elspeth Lax and run entirely by unpaid volunteers. You can read about how PiXiE was founded and gain some insight into how it has grown.

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National Organization for Rare Disorders

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We provide patient assistance programs to help individuals living with rare diseases:

Obtain medication

Receive financial help with insurance premiums and co-pays

Get diagnostic testing assistance

Receive travel assistance for clinical trials or consultation with disease specialists

Provide caregiver respite

Offer support during emergencies

Gain knowledge about rare diseases

Connect with other patient assistance programs

Help with Financial Assistance

Our RareCare program helps patients obtain life-saving or life-sustaining medication they could not otherwise afford. The program also provides financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials or consultation with disease specialists.
Learn More

Help with Caregiver Aid

Caring for a loved one demands significant amounts of time, attention, patience and dedication. Our Respite Program provides financial assistance to enable caregivers a break to attend a conference, event or simply have an afternoon or evening away from caregiving. We grant up to $250 annually for those who qualify.
Learn More

Help with Emergency Relief

We have teamed up with the MedicAlert Foundation to provide protection to rare disease patients in emergency situations. The program provides eligible individuals with a MedicAlert product and three years of membership with a new membership using the tracking code: NORD. MedicAlert will donate 20% of the membership fees to NORD to further our mission of providing care and resources for those living with rare disorders.

For more information and to apply, please contact: [email protected] or 203.616.4325.
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Help with Educational Support

The Rare Disease Educational Support Program reimburses registration costs for rare disease-specific educational offerings such as workshops, nutrition classes, and conferences, as well as limited financial assistance for travel and lodging costs.

For more information and to apply, please contact [email protected] or 860.556.2208.
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Financial Assistance For Patients With Rare Diseases | NORD

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Patient Assistance Programs that can help patients afforddrugs, offer medical assistance, and help pay medical bills.

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National Organization for Rare Disorders

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What is the purpose of this program?

The Rare Disease Education Support Program is designed to offer rare disease patients and/or their families/caregivers an opportunity to participate in educational programs and conferences that offer rare disease content. NORD's program provides financial support for registration costs (and once conferences are no longer solely virtual, the program will also provide limited assistance with associated travel and lodging costs for conference participation). Interested applicants may apply for financial assistance to advance their knowledge, participate in collaborative opportunities, network with peers, medical professionals, researchers, advocacy groups and subject matter leaders.

As the saying goes, knowledge is power. It is vital that people directly impacted by the more than 7,000 rare diseases are armed with the knowledge and information they need to live their best lives while managing their rare condition. One of the pillars of NORD's mission is educating patients and caregivers to advocate for themselves so they can gain access to accurate diagnoses, clinical research, quality care and treatments.

Who is eligible to apply?

This program is designed for those diagnosed with a rare disease and immediate family/caregivers.

The applicant or applicant's family member must be diagnosed with, or under consideration for diagnosis of a recognized rare disease.

The applicant(s) must be a US citizen or permanent resident of the United States for at least 6 months.

Assistance is based on eligibility criteria and funding availability

What is the application process for this program?

The rare disease diagnosed and or his/her family or caregiver may contact NORD by phone, or email to apply.

The RareCare ® Patient Services Representative will guide the applicant through the application process, determine eligibility and award assistance.

Awards are granted on a first come, first served basis.

What kinds of assistance are offered in this program?

Reimbursement for the registration costs of rare disease conferences and educational programs (conferences that provide patient or family scholarships are excluded).

Classes that are online, virtual or in-person may be eligible.

Examples of rare disease educational programs include:

General rare disease educational programs or conferences

Disease-state specific programs, or meetings

Workshops that support a specific care aspect for rare disease such as nutrition

Rare disease advocacy meetings

Rare disease support group meetings or workshops

Limited financial assistance with the cost of travel to a rare disease educational conference or program.

Limited assistance with the cost of lodging should overnight stay be required in order to attend or participate in a rare disease educational program.

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Rare Disease Educational Support - National Organization for Rare Disorders

# data[].attributes.attachment_link.description
The Rare Disease Education Support Program is designed to offer rare disease patients and/or their families/caregivers an opportunity to participate in educational programs and conferences that offer rare disease content. NORD's program provides financial support for registration costs (and once conferences are no longer solely virtual, the program will also provide limited assistance with associated travel and lodging costs for conference participation).