摘要
色素失禁症(IP)是一种由IKBKG基因突变引起的影响皮肤、牙齿、眼睛和中枢神经系统的X-连锁显性遗传性疾病,95%患者为女性。皮疹是色素失禁症的突出表现和主要诊断依据,而皮肤外损害往往是影响1P预后的因素。近年来更新了色素失禁症的诊断标准,而Sanger测序仍然是检测和分析IKBKG基因突变的金标准。临床上发现IP患者应全面评估,如发现眼视网膜病变和神经系统损害应给予积极治疗。
Incontinentia pigmenti(IP)is an X-linked dominant disease affecting the skin,teeth,eyes and central nervous system caused by mutations in the IKBKG gene.95%of patients are female.Skin rash is the prominent manifestation and main diagnostic basis of IP,while external skin damagesare often the factors affecting the prognosis of IP.The diagnostic criteria for IP have been updated in recent years,and Sanger sequencing remains the gold standard for the detection and analysis of IKBKG mutations.IP patients should be fully evaluated,and active treatment should be given if eye retinopathy and nervous system damage are found.
作者
王宪
汤建萍
李珂瑶
罗勇奇
Wang Xian;Tang Jianping;Li Keyao;Luo Yongqi(Department of Dermatology,Hunan Children’s Hospital,School of Pediatrics,Nanhua University,Changsha 410007,China)
出处
《中国医师杂志》
CAS
2021年第8期1274-1278,共5页
Journal of Chinese Physician
基金
湖南省卫生健康委员会2020年科研项目(20200341)。
