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Inherited Disorders and Birth Defects

incontinentia pigmenti



My granddaughter developed pigmentation all over her body except the palms and soles at around 2 months old after taking phenobarbital. We stopped the medicine because she really did not need it and later they thought she had IP. She did not have the beginning stages. She had the one rash that took us to the ER at age 8 weeks, which went away within a few days after lowering the medicine. She was diagnosed at that time with erythema multiforme. The IP issue came up and we had all of the tests Baylor can think of. There is no family history, no NEMO mutation, no mosaicism, negative biopsy, normal esosinophil count since birth, and normal x-inactivation. She is 4 now. More than half of the pigment all over her body is gone. The other problem she did have was HIE at birth with bleeding in all 3 vascular distributions including the pituitary. Mom had bad preeclampsia but delivered at 40 weeks. We no longer believe she has the IP and are trying to get a correct diagnosis, either from the phenobarb or the pituitary insult. The reason this is so important to us is because she went a year and a half with blue feet and no one listened to us and consequently she passed out and was diagnosed with severe pulmonary hypertension. She is doinf well on Flolan at this time. We just do not want to miss anything else but are trying to find a doctor to help us sort out the IP issues. We have never cared if she had that or not but Baylor has told us to move on and we cannot get answers. What is the most up to date information with IP, and how many IP patients die from their IP. The latest material I have been able to find shows less and less that they actually contribute to IP. Her neurologist at the childrens hospital that diagnosed her HIE does not believe she has IP either with all of the negative results but I am not sure who to see next, an allergist (because of phenobarb reaction), endocrinologist (because of pituitary involvement), IP cannot be the only reason that you can have full body hyperpigmentation. Thanks. Worried grandma.


I would agree with your granddaughter's doctors that she does not have incontinentia pigmenti (IP). From your description of what testing was done, including the DNA analysis of the gene that causes IP, there should not be any reason to believe that IP is what caused the hyperpigmentation and there is some other basis for the hyperpigmentation. I am in agreement with her neurologist that she does NOT have IP.

I assume HIE is Hypoxic-Ischemic Encephalopathy which can cause multiple problems including pulmonary hypertension. To prevent seizures, newborns are usually treated with anticonvulsants such as phenobarbital, which is what you describe as being done for your granddaughter. I do not know if hyperpigmentation can be a reaction to phenobarbital, however, your granddaughter's neurologist would be the most appropriate person to answer that question.

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University