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Thursday, August 21, 2014
Inherited Disorders and Birth Defects
My second daughter was diagnosed with incontinentia pigmenti but the specialist has not ordered any test to prove it. How do I know for sure that in fact that is what she has? And is there any specific test I need to request for her condition on her next appointment?
Incontinentia pigmenti is an inherited genetic disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system. It affects mostly girls. Symptoms of the disease usually start in the first few months after birth when blisters appear and then scar over, which changes the skin coloring.
The diagnosis can be made on the clinical presentation based on the skin findings. However, there is gene testing available to confirm the diagnosis. A gene called IKBKG has been shown to cause IP. About 80% of people diagnosed with IP will have a problem in the IKBKG gene.
If you have not already done so, I would recommend that you talk to a geneticist or genetic counselor. They can explain the inheritance pattern and order the gene testing to confirm the diagnosis. You can ask your doctor for a referral or you can locate a genetics clinic near you at the National Society of Genetic Counselors' Resource Center web site below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University