新生儿先天性外胚层发育不良1例  

Case report of one neonatal ectodermal dysplasias

作　　者：萧国良 杨杰[1] 叶秀桢[1] 帅春[1] 袁玉美[1] XIAO Guo Liang;YANG Jie;YE Xiu Zheng;SHUAI Chun;YUAN Yu Mei(Department of Neonatology,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院新生儿科,广州511442

出　　处：《中国妇幼卫生杂志》2021年第1期58-59,67,共3页Chinese Journal of Women and Children Health

摘　　要：目的介绍一例因反复发热在广东省妇幼保健院新生儿科住院的出生15天男性新生儿,该患儿最终确诊为新生儿先天性外胚层发育不良。方法出生15天男性住院患儿出现皮肤干燥、脱屑、毛发稀少、无汗,反复发热,我们对其进行皮肤活检最终确诊。结果皮肤活检显示皮肤附属器消失,诊断为先天性外胚层发育不良。本病是一种罕见的遗传性疾病,可影响牙齿、头发和汗腺的发育或功能。最常见表现为反复发热。结论对于新生儿有不明原因的反复发热,排除感染等引起发热的因素后,应考虑先天性外胚层发育不良的可能,避免延误病情。Objective To introduce a 15-day-old male newborn who was hospitalized in the Guangdong Women and Children Hospital due to repeated fever,and the newborn was finally diagnosed as congenital ectodermal dysplasia.Method 15-day-old male hospitalized newborn with dry skin,desquamation,sparse hair,absent sweating and recurrent fever were diagnosed by skin biopsy.Result Skin biopsy showed that the skin appendage disappeared and it was diagnosed as congenital ectodermal dysplasia.Congenital ectodermal dysplasia is a rare genetic disease that can affect the development or function of teeth,hair and sweat glands.The most common symptom is recurrent fever.Conclusion After excluding infection and other factors causing fever,for newborns with recurrent fever of unknown causes,the possibility of congenital ectodermal dysplasia should be considered to avoid delaying the disease.

关 键 词：外胚层发育不良 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]