Lethal Netherton Syndrome Due to Homozygous p. A rg371 X  Mutation in  SPINK 5 | Zendy

Diociaiuti Andrea | Zendy; Castiglia Daniele | Zendy; Fortugno Paola | Zendy; Bartuli Andrea | Zendy; Pascucci Monica | Zendy; Zambruno Giovanna | Zendy; El Hachem May | Zendy

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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.

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