Wakiguchi Hiroyuki, Hasegawa Shunji, Maeba Shinji, Kimura Sasagu, Ito Satoko, Tateishi Hiroshi, Ueda Kazuhiro, Ohga Shouichi
Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan.
Division of Pediatrics, JCHO Tokuyama Central Hospital, Shunan, Yamaguchi, Japan.
AJP Rep. 2016 Mar;6(1):e108-11. doi: 10.1055/s-0035-1570386.
Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype. Case Description An 11-day-old Japanese newborn infant was hospitalized because of herpetiform skin blistering on the feet, which expanded systemically after birth. There was no evidence of virus infection. The biopsied skin lesion showed a blister on the lamina densa without keratin clumps, indicating a diagnosis of EBS-generalized intermediate. We punctured the blisters to remove the contents daily, which led to no exacerbation or infection. The genetic study determined that the patient carried double substitutions of KRT5 c.1424A > G (p.E475G) and KRT14 c.1237G > A (p.A413T). The asymptomatic mother and sister carried the KRT14 substitution, but the healthy father had no substitution of the KRT gene. Conclusion This is the first report of EBS-generalized intermediate in a newborn with de novo KRT5 gene mutation and KRT14 gene polymorphism, and no familial history of epidermolysis. Neonatal blistering due to EBS requires optimal skin management after excluding infectious and immunobullous diseases.
单纯性大疱性表皮松解症（EBS）是一种由多种基因突变引起的罕见遗传性皮肤病，包括KRT5和KRT14。这种机械性大疱性皮肤脆性疾病的临床表型尚未完全由基因型来解释。病例描述：一名11日龄的日本新生儿因足部出现疱疹样皮肤水疱而住院，出生后水疱全身扩散。没有病毒感染的证据。活检的皮肤病变显示致密板层出现水疱，无角质团块，诊断为泛发性中间型EBS。我们每天穿刺水疱以排出疱液，未导致病情加重或感染。基因研究确定该患者携带KRT5基因c.1424A＞G（p.E475G）和KRT14基因c.1237G＞A（p.A413T）的双重替换。无症状的母亲和姐姐携带KRT14基因替换，但健康的父亲没有KRT基因替换。结论：这是首例报道的患有新发KRT5基因突变和KRT14基因多态性且无表皮松解症家族史的新生儿泛发性中间型EBS。排除感染性和免疫性大疱性疾病后，EBS导致的新生儿水疱需要进行最佳的皮肤管理。
