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  Laura M Richter
  President and CEO
  30 East 72nd Street
  Suite 16
  New York, NY
  10021 U.S.A.

  Mailing Address:
  78 Saint Moritz Dr
  Erial, NJ 08081 U.S.A.

  Tel: 212 452 1231
  Fax: 212 452 1231
  Email: ipif@ipif.org

  Susanne Bross Emmerich
  Founder

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  Incontinentia Pigmenti International Foundation



CAN MALES HAVE INCONTINENTIA PIGMENTI?
As stated above, males have only one X chromosome. If the IP gene on a male's only X chromosome is severely damaged, males cannot survive. A healthy version of the NEMO gene is apparently so critical to life that a nonfunctional version in males causes death before or shortly after birth. There are, however, several cases of males diagnosed with IP. These individuals typically manifest IP due to carrying an extra X chromosome (XXY) or to being mosaic for both XY and XX cells. These cases can be confirmed through testing for NEMO mutations. Some mutations in NEMO manifest in disorders in males that are different from IP. These males are often characterized as having ectodermal dysplasia and/or immune deficiencies. There is disagreement among researchers and clinicians as to whether these boys really have IP, or, do they have a similar disorder that closely resembles IP. One of the benefits of identifying the gene, is that these males can now be definitively diagnosed and it can be determined if they do indeed have IP. Early findings with the NEMO gene suggest that males with features of IP may have more subtle mutations that cause their symptoms. Several articles have been written and are available through the Foundation about males with IP.

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