1. A Case of Incontinentia Pigmenti with Multiple Brain Infarction.
- Author
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Tae Hee KimA, Young Jin Choi, Hyun-Kyung Park, Chang-Ryul Kim, and Hyun Ju Lee
- Subjects
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NEUROCUTANEOUS disorders , *X-linked genetic disorders , *CEREBRAL infarction , *NF-kappa B , *MAGNETIC resonance imaging , *INFANT development - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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