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Genetic and Rare Diseases Information Center (GARD)

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Pseudoxanthoma elasticum


Other Names for this Disease
  • Gronblad Strandberg syndrome
  • PXE
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Your Question

My mother was diagnosed with pseudoxanthoma elasticum, but no one in the previous three generations of my father's family have been diagnosed with this condition.  Now I have a baby who seems to have lumps which look like pseudoxanthoma elasticum on his neck, but no one in the previous three generations of my husband's family have been diagnosed with this condition.  My questions are:
1. How can I know whether or not my husband or I are unaffected carriers?  What type of blood test do I need to have?
2. Several websites say that pseudoxanthoma elasticum is untreatable.  Is that true? Can the progression of this condition be slowed down or managed?
3.  My baby was only 3-4 months old when I saw the yellow lumps on his neck, but I read that the average age for the onset of symptoms is in the teens.  Is it possible for a baby to show symptoms?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1]  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.[1]
Last updated: 8/16/2011

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 surgeryvascular 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.[1]
Last updated: 8/16/2011

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.[2]  However, there was one report of an infant who was found to have the characteristic bumps on the neck at birth.[3] 
Last updated: 8/16/2011

References
  • Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed 8/12/2011.
  • Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. British Journal of Dermatology. 2009; 161:635-639. http://www.ncbi.nlm.nih.gov/pubmed/19519828. Accessed 8/12/2011.
  • Goodman RM, Smith EW, Paton D, Bergman RA, Siegel CL, Ottesen OE, Shelley WM, Pusch AL, McKusick VA. Pseudoxanthoma elasticum: A clinical and histopathological study. Medicine. 1963; 42:297-334. http://www.ncbi.nlm.nih.gov/pubmed/14068068. Accessed 8/12/2011.