Case of the Week #505

Lech Dudarewicz

Posting Dates: September 26, 2019 - October 10, 2019

Affiliations: Polish Mother’s Memorial Hospital, Department of Genetics, 281/289 Rzgowska St. 93-338 Lodz, Poland. Email lechdudarewicz@gmail.com

Case report: A mother with a known genetic condition was sent to our unit at 15 weeks of pregnancy. The following images show skin lesions related to the genetic disease of the mother, and ultrasound findings of the fetus. The fetus was female and the genetic disease has a X-linked dominant inheritance. What is this uncommon diagnosis?

Image 1
Image 1: maternal skin lesions
Video 1

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Answer

We present a case of Incontinentia Pigmenti.

The mother exhibited characteristic skin lesions. Fetal imaging demonstrated a posterior cephalocele, seemingly isolated, in the female fetus. As a X-linked dominant disease, affected female fetuses have milder symptoms, because they have another copy of X chromosome bearing the wild-type (normal) allele. Affected females exhibit mainly skin and ectodermal anomalies, and sometimes central nervous system lesions, as in this case. Male fetuses, whose only allele is mutated, die in utero at the end of the first trimester showing signs of hydrops.

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