INCONTINENTIA PIGMENTI COMMUNITY
IP mosaic form in girls

IP mosaic form in girls

My 11 week old granddaughter was diagnosed with IP last week (through biopsy).  She was born with a few sores on her left arm that healed and then reappeared (thus the journey to diagnosis began)  The rash has only appeared on her left arm from about the armpit to her wrist, but mostly from the elbow to the wrist.  The dermatologist mentioned that it may a mosaic form of IP. Her Mom does not have IP that we know of, it is believed to be an original mutation...I think that is what she called it.  I have read a fair bit and have only read about males with the mosaic form ( where only an isolated group of cells are affected)...I am wondering if there is anyone with a baby girl with the Mosaic form of this problem and how do they determine if there are any other areas of the body that may or may not be affected, IE: the eyes, teeth, brain, and reproductive system?
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from what I understand women are always a mosaic, this is why men with the disease are not able to survive. Women have two copies of the X crhomosome and they survive because they can use the good X chromosome. The cells expresing the damaged one, will die. All women have some inactivation of their X chromosome (I believe it's 50/50) girls with IP have a 90/10 or something similar since one of them does not work as it should.
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with ip, it can affect the hair, teeth, skin, nails, eyes, and several others. my daughter has 5 of the symptoms of ip, where others only have the skin pigment. if you go to this website it will help alot. www.nfed.org. ip falls under the ecodermal dysplaysias, which is 150 different rare genetic disorders. i hope this helps, and if you have any questions please let me know and i will do my best to help.
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