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Incontinentia pigmenti: correlation between clinical presentation and genetics

Danielle Marcoux, MD, CHU Sainte-Justine, Montreal, QC

Incontinentia Pigmenti (IP) is a genetic disease affecting the skin, hair, teeth, eyes and central nervous system. It is transmitted with the X chromosome and females have a variable clinical expression of severity while male foetuses usually die in utero. Recently milder cases of IP have been described and it is suspected that the more severe cases might be over-represented in the literature. With the recent identification of the gene responsible for IP, the mutated NEMO gene, the question “Does everybody have the same mutation?” arises. It has been shown recently that in about 70 to 80% of families, even if unrelated, the mutation in the NEMO gene resulting in IP is identical. Some variation in the disease, expressed as milder cases, could be explained by a different (milder) mutation. This could be confirmed by a DNA-based diagnosis. A more thorough understanding of the variable expressions of IP will hopefully allow for a comprehensive grasp of the possible complications, as well as better genetic counseling and prognosis. Therefore, we want to correlate the longitudinal clinical findings of a group of 60 patients, followed at our hospital in some instances for over 20 years, to their genetic findings.

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