Lethal netherton syndrome due to homozygous p.Arg371X mutation in SPINK5

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Abstract

Here we report a lethal case of Netherton syndrome presenting with neurologic complications, hypernatremic dehydration, failure to thrive, and episodes of sepsis. Molecular analysis of the serine protease inhibitor Kazal-type 5 gene identified a homozygous mutation (c.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.

Original languageEnglish
JournalPediatric Dermatology
Volume30
Issue number4
DOIs
Publication statusPublished - Jul 2013

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ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

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