The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology
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首例家族性单纯性大疱性表皮松解症，全身严重，KRT5 中 p.Asn176Ser 揭示了临床年表
DOI：
10.1111/jdv.14036
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发表时间：
2017
影响因子：
9.2
通讯作者：
Shimizu H
中科院分区：
文献类型：
--
作者：
Sugai T;Shinkuma S;Inafuku K;Takashima S;Nomura T;Fujita Y;Nakamura H;Shimizu H
文章介绍了案例研究，包括5个月大的女孩，出生后全身出现大面积水疱和糜烂，以及先证者的父亲，39岁的男性，出生后全身出现全身水疱。它提到透射电子显微镜（TEM）显示表皮基底细胞的细胞质内形成了水泡。它还进一步说明了女孩单纯性大疱性表皮松解症 (EBS) 的诊断。
The article presents case studies including 5-month-old girl with extensive blistering and erosions on the whole body since birth and a 39-year-old man, the father of the proband, with generalized blisters on the whole body since birth. It mentions that transmission electron microscopy (TEM) revealed blister formation within the cytoplasm of the epidermal basal cells. It further states diagnosis of epidermolysis bullosa simplex (EBS) in girl.