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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



DIAGNOSIS
Now that the gene responsible for IP has been characterized, diagnosis can be supplemented with molecular testing. However, diagnosis of new patients is normally carried out using clinical criteria. If the classic rash is present in a newborn, the diagnosis is fairly straightforward, but it can be more difficult when the rash is mild, when not all the stages are present, or when an adult is seen and the lesions have faded. A skin biopsy that shows the presence of "loose" melanin (the brown-black skin pigment) in the dermis of the skin confirms the diagnosis, in the appropriate clinical setting. When there is little or no skin involvement, IP may be assumed to be the diagnosis in individuals "at risk" for the disease if they have other features such as tooth abnormalities, missing patches of hair, or overgrowth and scarring of the retinal blood vessels. Such an "at risk" individual would be a woman with two (or more) affected daughters, the daughter of an affected woman, or the sister of an affected woman who herself has had the miscarriage of more than one male fetus.

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