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Case Report
  |     |   Neonatal Med_20_2_228_232.pdf
Neonatal Med May;20(2):228-232.
Published online 2013 June 26   doi: https://doi.org/10.5385/nm.2013.20.2.228
Copyright ⓒ 2013 Neonatal Medicine Neonatal Medicine
A Case of Incontinentia Pigmenti with Multiple Brain Infarction
Tae Hee Kim, M.D., Young Jin Choi, M.D., Hyun-Kyung Park, M.D., Chang-Ryul Kim, M.D., and Hyun Ju Lee, M.D.
Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
Corresponding Author: Hyun Ju Lee, M.D. , Tel: +82-2-2290-8384 , Fax: +82-2-2297-2380 , Email: 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.
Keywords: Incontinentia pigmenti, Multiple brain infarction, NEMO gene
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