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

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4 Citations (Scopus)

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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Netherton Syndrome
Failure to Thrive
Serine Proteinase Inhibitors
Dehydration
Nervous System
Early Diagnosis
Sepsis
Mutation
Genes

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Lethal netherton syndrome due to homozygous p.Arg371X mutation in SPINK5",
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.",
author = "Andrea Diociaiuti and Daniele Castiglia and Paola Fortugno and Andrea Bartuli and Monica Pascucci and Giovanna Zambruno and {El Hachem}, May",
year = "2013",
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AU - Diociaiuti, Andrea

AU - Castiglia, Daniele

AU - Fortugno, Paola

AU - Bartuli, Andrea

AU - Pascucci, Monica

AU - Zambruno, Giovanna

AU - El Hachem, May

PY - 2013/7

Y1 - 2013/7

N2 - 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.

AB - 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.

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