Neonatal Med.  2013 May;20(2):228-232.

A Case of Incontinentia Pigmenti with Multiple Brain Infarction

Affiliations
  • 1Department 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.

Keyword

Incontinentia pigmenti; Multiple brain infarction; NEMO gene

MeSH Terms

Biopsy
Brain
Brain Infarction
Central Nervous System
Cerebral Infarction
Ectoderm
Eye
Female
Follow-Up Studies
Hair
Humans
Incontinentia Pigmenti
Infant
Infant, Newborn
Male
Neurocutaneous Syndromes
NF-kappa B
Parturition
Skin
Tooth
NF-kappa B
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