Netherton syndrome: a neonatal case with respiratory insufficiency

被引：1

作者：

Okulu, Emel ^{[1
]}

Tunc, Gaffari ^{[1
]}

Erdeve, Omer ^{[1
]}

Mumcu, Yelda ^{[2
]}

Atasay, Begum ^{[1
]}

Ince, Erdal ^{[3
]}

Arsan, Saadet ^{[1
]}

机构：

[1] Ankara Univ, Fac Med, Dept Pediat, Div Neonatol, Ankara, Turkey

[2] Ankara TOBB ETU Hosp, Neonatal Intens Care Unit, Ankara, Turkey

[3] Ankara Univ, Fac Med, Dept Pediat, Div Pediat Infect Dis, Ankara, Turkey

来源：

ARCHIVOS ARGENTINOS DE PEDIATRIA | 2018年 / 116卷 / 04期

关键词：

Infant newborn; Netherton syndrome; respiratory insufficiency; EXPRESSION; MUTATIONS; SPINK5;

D O I：

10.5546/aap.2018.eng.e609

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.

引用

页码：E609 / E611

页数：3

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