A Case of Incontinentia Pigmenti with Multiple Brain Infarction.

Kim,  Tae Hee; Choi,  Young Jin; Park,  Hyun Kyung; Kim,  Chang Ryul; Lee,  Hyun Ju

doi:2013.20.2.228

Neonatal Med > Volume 20(2); 2013 > Article

Case Report

Neonatal Medicine 2013;20(2):228-232.
DOI: https://doi.org/10.5385/nm.2013.20.2.228 Published online June 26, 2013.

A Case of Incontinentia Pigmenti with Multiple Brain Infarction.

Tae Hee Kim, Young Jin Choi, Hyun Kyung Park, Chang Ryul Kim, Hyun Ju Lee

Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea. blesslee77@hanmail.net.net

Abstract

Incontinentia pigmenti (IP) is a rare X-linked dominant disease that is typically lethal to males and usually affect female patients. IP is a neurocutaneous disorder, involving the ectodermal tissues such as the skin, eyes, teeth, hair, and central nervous system. The pathogenesis of IP is linked to the gene mutation in the NF-kappa B essential modulator (NEMO) on chromosome Xq28. We experienced one case of newborn with multiple vesiculobullous skin lesions over the entire body after birth. Skin biopsy and histologic studies revealed suspected IP stage I and the genetic analysis of the NEMO confirmed IP diagnosis. A brain MRI showed multiple cerebral infarctions and the infant has shown delayed development in follow-up clinic.

Key Words: Incontinentia pigmenti; Multiple brain infarction; NEMO gene