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Lethal Netherton Syndrome Due to Homozygous p. A rg371 X Mutation in SPINK 5
Author(s) -
Diociaiuti Andrea,
Castiglia Daniele,
Fortugno Paola,
Bartuli Andrea,
Pascucci Monica,
Zambruno Giovanna,
El Hachem May
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12076
Subject(s) - medicine , failure to thrive , mutation , serine protease , sepsis , dermatology , pediatrics , gene , protease , genetics , biology , biochemistry , enzyme
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.1111 C > T , p. A rg371 X ). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.