不伴毛发异常的Netherton综合征1例  

A Case of Netherton Syndrome without Bamboo Hair

作　　者：陈瑞萍[1] 杨庆琪[1] 曲丽娜 郭广进[3] CHEN Ruiping;YANG Qingqi;QYU Lina;GUO Guangjin(Department of Dermatology,Air Force General Hospital,Beijing 100142,China;Department of Dermatology,Longnan Hospital of Daqing,Daqing 163000,China;Central Laboratory,Air Force General Hospital,Beijing 100142,China)

机构地区：[1]空军总医院皮肤科,北京100142 [2]大庆市龙南医院皮肤科,黑龙江大庆163000 [3]空军总医院中心实验室,北京100142

出　　处：《中国皮肤性病学杂志》2018年第11期1288-1290,共3页The Chinese Journal of Dermatovenereology

摘　　要：患者女,35岁,父母为表兄妹近亲结婚,出生后第3天起全身出现弥漫性红斑、水疱、渗出。此后皮疹反复发作,以红斑、脱屑为主,红斑呈特殊的环状、匍匐状,伴有水疱、脓疱,可见双边脱屑,瘙痒剧烈。患者家族中无类似病例,全身毛发正常,皮损组织病理及免疫荧光结果均无特殊,经PCR及DNA测序检测,证实患者SPINK基因存在c. 2015+1G> T纯合突变,确诊为Netherton综合征。A 35-years-old female patient, whose parents were cousin marriage. She presented with erythema, scales, pruritus, blister and pustules for more than 30 years. There were no similar cases in her family. She had normal hair all over the body, and her histopathological and immunofluorescent results were not specific. Detected by PCR and DNA sequencing, c. 2015 ＋ 1G 〉 T homozygous mutations in the SPINK gene were confirmed.

关 键 词：Netherton综合征 SPINK基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]