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Diseases

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 Questions Answered


1 question(s) from the public on this disease have been answered. Submit a new 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? Click here for answer