p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex
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角蛋白 5 中的 p.Glu477Lys 突变不一定会导致全身性严重单纯性大疱性表皮松解症的死亡
DOI：
10.1111/1346-8138.14258
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Kabashima Kenji
中科院分区：
文献类型：
--
作者：
Komori Takaya;Dainichi Teruki;Masuno Yuka;Otsuka Atsushi;Nakano Hajime;Sawamura Daisuke;Ishida-Yamamoto Akemi;Kabashima Kenji
尊敬的编辑先生，泛发性重度单纯性大疱性表皮松解症(GS-EBS)是一种罕见而严重的EBS亚型。1、2在GS-EBS中，Krt5基因的p.Glu477Lys突变与死亡率密切相关。1我们报告一例携带Krt5p.Glu477Lys突变的GS-EBS家族病例，无致死性并发症。一名日本女孩因人工授精于妊娠37周出生。婴儿在1分钟时阿普加评分为9分，5分钟时为10分。出生体重2260克，头围32.5厘米。她出生时四肢、小腹和背部有水泡(图1a)。口腔粘膜内也可见口疮和水泡。
Dear Editor, Generalized severe epidermolysis bullosa simplex (GS-EBS) is a rare and severe subtype of EBS. 1, 2 Among GS-EBS, the p. Glu477Lys mutation in KRT5 is strongly associated with mortality. 1 Here, we report our familial case of GS-EBS harboring KRT5 p. Glu477Lys mutation without fatal complications.A Japanese girl was born at 37 weeks’ gestation as a result of artificial insemination. The infant’s Apgar scores were 9 at 1 min and 10 at 5 min. Her birthweight was 2260 g and head circumference was 32.5 cm. She had blisters on the extremities, lower abdomen and the back at birth (Fig. 1a). Aphthae and blisters were also observed in the oral mucosa.
角蛋白 5 中的 p.Glu477Lys 突变与全身性严重单纯性大疱性表皮松解症的死亡率密切相关。
影响因子：
6.5
作者：
D. Sathishkumar;E. Orrin;A. Terron;F. Browne;Anna E. Martinez;J. Mellerio;M. Ogboli;S. Hoey;L. Ozoemena;Lu Liu;D. Baty;J. McGrath;C. Moss
通讯作者：
C. Moss
影响因子：
3.1
作者：
Stevens, Louise J.
通讯作者：
Stevens, Louise J.