先天性大疱性表皮松解症死亡1例

1 case of death with congenital epidermolysis bullosa

目的:探讨新生儿先天性大疱性表皮松解症(EB)临床特点、发病机制、诊断及治疗。方法:结合1例新生儿EB患儿,对EB的临床表现、诊断和治疗方法等进展复习。结果:EB是一种遗传性皮肤疾病,表现为皮肤黏膜受轻微外力摩擦后起疱疹,这组疾病可简单分为4种亚型,即单纯型、半桥粒型、交界型和营养不良型。确诊靠基因定位、透视电子显微镜和免疫荧光检测,无条件可通过临床表现和家族史来诊断。应与新生儿脓疱疮、新生儿剥脱性皮炎、先天性梅毒等病鉴别。临床以对症治疗为主,基因治疗有望成为根本方法。结论:新生儿EB临床表现复杂,确诊较困难,尚无特殊的治疗方法,基因治疗有望成为根本方法。

Objective：To explore the clinical features, pathogenesis, diagnosis and treatment of newborn congenital epidermolysis bullosa （EB）. Method： The progress of clinical manifestation, diagnosis and treatment of 1 case of newborn EB were reviewed. Results：EB is a hereditary skin disease, with herpes of the mucous membrane and the skin by slight external friction. This group of disease can be simply classified into 4 subtypes, namely EBS, EBHD, JEB and DEB. It could be diagnosed by gene localization, the perspective electron microscope and immunofluoreseence test. When the a- bove conditions are not available, it can be diagnosed with clinical manifestation and family history. The possibilities of impetigo neonatorum, dermatitis exfoliativa neonatornm, congenital syphilis should be taken into consideration. Symptomatic treatment, gene therapy are expected to become fundamental method： Conclusion： Clinical manifestation of newborn EB is complicated, it is diffieuh to diagnose, no special treatment, gene therapy is expected to become fundamental method.