A case of incontinentia pigmenti with multiple brain infarction
- Title
- A case of incontinentia pigmenti with multiple brain infarction
- Author
- 박현경
- Keywords
- Incontinentia pigmenti; Multiple brain infarction; NEMO gene
- Issue Date
- 2013-05
- Publisher
- Korean Society of Neonatology
- Citation
- Neonatal Medicine, 2013, 20(2), P.228-232
- Abstract
- ncontinentia 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.
- URI
- https://synapse.koreamed.org/DOIx.php?id=10.5385/nm.2013.20.2.228http://hdl.handle.net/20.500.11754/46070
- ISSN
- 2287-9412
- DOI
- 10.5385/nm.2013.20.2.228
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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