Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

被引:9
作者
Diociaiuti, Andrea [1 ]
Castiglia, Daniele [2 ]
Fortugno, Paola [1 ]
Bartuli, Andrea [3 ]
Pascucci, Monica [2 ]
Zambruno, Giovanna [2 ]
El Hachem, May [1 ]
机构
[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, I-00165 Rome, Italy
[2] IRCCS, Ist Dermopat Immacolata, Lab Mol & Cell Biol, Rome, Italy
[3] Bambino Gesu Pediat Hosp, IRCCS, Rare Dis Unit, I-00165 Rome, Italy
关键词
EXPRESSION;
D O I
10.1111/pde.12076
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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.
引用
收藏
页码:E65 / E67
页数:3
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