Pseudoxanthoma elasticum

What testing is available to identify unaffected carriers of pseudoxanthoma elasticum?

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. 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.

Last updated on 05-01-20

Should individuals with pseudoxanthoma elasticum (PXE) take an antibiotic or other medication prior to dental procedures?

Individuals with PXE who also have mitral valve prolapse should take antibiotics prior to dental, gastrointestinal, and genitourinary procedures. We strongly recommend that you discuss your need for any special medications prior to the above-mentioned medical procedures with your healthcare provider(s).

Last updated on 05-01-20

What is the earliest age at which symptoms of pseudoxanthoma elasticum can begin?

The first symptom of this condition is often the yellowish bumps on the skin typical of pseudoxanthoma elasticum. Most studies describe these skin bumps as appearing in childhood. However, there was one report of an infant who was found to have the characteristic bumps on the neck at birth.

Last updated on 05-01-20

What treatment might be available for pseudoxanthoma elasticum?

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 surgery, vascular 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.

Last updated on 05-01-20

Where To Start

PXE International

A description of PXE including its signs, effects and medical care can be found in the PXE International's General Bulletin.

Last updated on 04-27-20

Name: PXE International 4301 Connecticut Avenue NW, Suite 404
Washington, DC, 20008-2369, United States
Phone: 202.362.9599 (main office) Fax : 202.966.8553 Email: Url:
Name: Hypermobility Syndromes Association HMSA 49 Greek Street
London, WD1 4EG, United Kingdom
Phone: 033 3011 6388 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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