12例先天性大疱性表皮松解症新生儿临床资料回顾分析  

Retrospective clinical data analysis of 12 neonates with inherited epidermolysis bullosa

作　　者：王晓娇 王亚娟 杨彩云 王慧欣 杨学芳 邵芳 顾松 杨子馨 Wang Xiaofiao;Wang Yajuan;Yang Caiyun;Wang Huixin;Yang Xuefang;Shao Fang;Gu Song;Yang Zixin(Beijing Children＇s Hospital,Capital Medical University,National Center for Children＇ s Health,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院新生儿中心,100045

出　　处：《北京医学》2018年第7期633-636,共4页Beijing Medical Journal

摘　　要：目的探讨新生儿先天性大疱性表皮松解症(epidermolysis bullosa,EB)的临床特点、发病机制、诊断及治疗。方法收集2009年7月至2016年6月首都医科大学附属北京儿童医院新生儿中心收治的12例EB新生儿的临床资料,对EB的临床表现、诊断和治疗方法进行总结分析。结果 11例存在下肢及足部皮损,其中10例同时伴有上肢或手部皮损、合并颜面部皮损5例、合并口腔黏膜皮损5例;12例均有水疱形成;1例住院期间合并发热;3例存在明确类似疾病家族史;WBC 4例正常,2例降低,6例升高;CRP 4例正常,8例升高;8例行血培养检查,其中7例结果阴性;6例行疱液培养,其中5例为阴性,1例为金黄色葡萄球菌;4例行局部皮肤病理学检查(均为光镜检查),其中3例结果支持EB诊断,2例完善了相关基因检查,其中1例提示营养不良型EB。12例患者中,3例好转出院;9例因各种原因自动出院。随访8例,4例失访。结论新生儿EB发病早,需与其他大疱性皮肤疾病相鉴别,诊断依靠透射电镜、基因诊断等检查。治疗无特异性。Objective To investigate the clinical characteristics, pathogenesis, diagnosis and treatment of neonatal congenital epider molysis bullosa EB . Methods The clinical data of 12 cases of neonatal congenital EB from July2009 to June 2016 in Beijing Children s Hospital were collected, and their clinical characteristics, diagnosis and treatment methods were summarized and analyzed. Results Eleven cases had lesion site of lower limb and foot, including 10 cases with upper limb or hand, combined with facial skin lesions in 5 cases, and oral mucosal lesions in 5 cases. Blister formation occurred in 12 cases. Fever occurred in 1 case during hospitalization. The definite family history of similar diseases was found in 3 cases. Four cases of white blood cell count were in normal range, 2 cases decreased, and 6 cases increased.C-reactive protein was normal in 4 cases and elevated in 8 cases. Blood cultures were performed in 8 patients, and 7 of them were negative. 6 cases of blister culture, in which 5 cases were negative, 1 case was Staphylococcus aureus. Local skin pathology was performed in 4 cases, in which 3 cases supported EB. In 2 cases, relevant gene tests were completed,in which 1 cases was dystrophic EB. Of the 12 cases, 3 cases were discharged from the hospital and 9 were discharged from hospital for various reasons. Eight cases were followed up, and 4 cases were lost. Conclusion Neonatal congenital EB is onset early and needs to be differentiated from many bullous skin diseases. The diagnosis is based on transmission electron microscopy and gene diagnosis. No specific method is developed in the treatment.

关 键 词：大疱性表皮松解症 先天性 临床表现 治疗 预后 新生儿 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]