【摘要】 目的探讨新生儿色素失禁症(IP)的发病原因、临床表现及其他系统受累情况,旨在提高对该病的认识。方法选择2008-2012年于贵阳医学院附属医院新生儿科就诊并随访的4例新生儿IP患儿和既往文献报道的145例该病患儿为研究对象。对其性别、发病时间、家族史、皮肤损害特点、其他系统受累情况进行回顾性分析。本研究遵循的程序符合贵阳医学院附属医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象监护人的知情同意,与之签署临床研究知情同意书。结果 1本院4例患儿均为女性且生后即存在皮疹(100%),其中有阳性家族史、牙齿发育异常(锥形牙)、斑秃患儿各为1例(25%),而体格、智力、视听发育均无明显异常。2文献复习结果示,男女比例为1∶9,有阳性家族史患儿患儿为72例(48.3%),新生儿期及以前发病患儿为137例(91.8%),100%(149/149)的患儿具有皮肤损害,54.4%(81/149)的患儿有皮肤外其他系统受累。37例行基因检测的新生儿IP患儿中,5例(71.4%)患儿NEMO基因内共有序列NEMOΔ4~10缺失。结论新生儿IP临床多见于女性。约半数新生儿IP患儿有阳性家族史,大多数患儿于新生儿期及以前发病,均出现典型皮疹,常伴其他系统受累。新生儿IP患儿皮疹可自愈,其预后取决于其他系统受累情况。更多还原

【Abstract】 Objective To investigate the clinical characteristics and other system involvements in patients with neonatal incontinentia pigmenti(IP).Methods From 2008 to 2012,a total of 4 neonatal infants with neonatal IP who were diagnosed and followed-up for 3-4 years in Hospital Affiliated to Guiyang Medical College were included in the study.Meanwhile 145 cases of neonatal IP reported from 1990 to 2012 were also studied.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Hospital Affiliated to Guiyang Medical College.Informed consent was obtained from each participants′parents.The gender,morbidity time,family history,characteristics of skin lesions,and other system involvements were analyzed.Results 1 All IP infants in our hospital were female,and they all had typical skin lesions(100%),one of them(25%)had respectively apositive family history and teeth dysplasia(cone)and alopecia areata,none had abnormality in physical,intellectual and audio-visual development.2 The ratio of males and females was 1/9in the study,72 cases(48.3%)had positive family history,137 cases(91.8%)were diagnosed before and during neonatal period,all patients(100%,149/149)had typical skin lesions,54.4%(81/149)of them had other system involvements.37 cases had genetic testing in the study.Five of them(71.4%)had NEMOΔ4~10 gene segment deletion.Conclusions Female is the most predilection gender in neonatal IP.Almost half of neonatal IP patients have positive family history.They all have skin lesions,Most of them are diagnosed before and during neonatal period,and often accompany with other system involvements.The skin lesions could be self-healing in neonatal IP patients,but their prognosis still depended on other systems involvement.更多还原