Diagnostic criteria and treatment progress of incontinentia pigmenti

VernacularTitle:色素失禁症的诊断标准和治疗进展
Author: Xian WANG ¹ ; Jianping TANG ; Keyao LI ; Yongqi LUO
Author Information

1. 南华大学儿科学院，湖南省儿童医院皮肤科，长沙　410007
Keywords: Incontinentia pigmenti; IKBKG gene
From: Journal of Chinese Physician 2021;23(8):1274-1278
CountryChina
Language:Chinese
Abstract: 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.