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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Phacomatosis pigmentovascularis


Other Names for this Disease

  • Association of cutaneous vascular malformations and different pigmentary disorders
  • Phakomatosis pigmentovascularis
  • PPV
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Cause

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What causes phacomatosis pigmentovascularis?

Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.[1]
Last updated: 2/1/2011

References
  1. Moutray T, Napier M, Shafiq A, Fryer A, Rankin S, Willoughby CE. Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. Am J Med Genet A. 2010 Mar;


Other Names for this Disease
  • Association of cutaneous vascular malformations and different pigmentary disorders
  • Phakomatosis pigmentovascularis
  • PPV
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.