Systematic Review Of 185 Cases Of Pigment Incontinence In Children

Background:Incontinentia Pigmenti is a rare X-chromosome dominant inherited multisystem disease caused by IKBKG gene mutation.The incidence rate is about 1.2/100,000^[1].Female is more common,and male is usually died in utero.Up to now,there have been successively reported cases of male survival,mostly are 47-XXY karyotype（Klinefelter syndrome）or somatic chimerism.In recent years,IP case reports have increased gradually.Several scholars,such as Mini?^[2-5],Fusco^[6],carried out a series of systematic review studies on the skin,hair,nail changes,teeth,mouth,eye,central nervous system complications and related gene mutations in patients with incontinentia pigmenti.Due to the large difference in sample size,there are some differences in various studies.There are few clinical studies on patients with incontinentia pigmenti in China,and no literature about systematic review study of large sample cases of incontinentia pigmenti has been retrieved.Objective:To analyze the incidence,clinical manifestations,family history and IKBKG gene mutation of incontinentia pigmenti（IP）in children,to study the damage of various systems outside the skin of IP with IKBKG gene mutation and IP with family history,and to improve the understanding of the relevant professional clinicians on IP,so as to provide some guidance for the early identification,diagnosis and prenatal diagnosis of IP.Method:Retrospective analysis the general situation,clinical manifestations,family history and IKBKG gene detection of 185 cases of children with IP（age≤14years old,25 males and 160 females）reported in related literatures at home and abroad from 2010 to 2019,and the data collected were analyzed by SPSS 22.0 statistical software.Results:1.Incontinentia pigmemti is often associated with neonatal onset,mainly manifested as four typical skin lesions along the Blaschko line.The lesions of various systems outside the skin were as follows:central nervous system damage（34.1%）>eye damage（31.9%）>tooth/oral abnormality（22.2%）.There was no significant difference between male and female patients.2.About 1/3 of IP patients have family history,and there is no significant difference between patients with positive family history and sporadic cases.3.IKBKG gene mutation is the main cause of IP,of which the most common type was the deletion of IKBKG gene 4-10（82.9%）.There was no significant difference in the incidence of each system between the patients with IKBKG gene mutation and the patients with gene mutation negative.4.There was no significant difference in the incidence rate of ocular abnormalities,central nervous system abnormalities,dental/oral abnormalities,skin accessory organs（hair and nails）between domestic and overseas.The incidence rate of 2 or more than 2systems damage outside the skin systems in of foreign group is Significantly higher than that in domestic patients.Conclusion:1.Incontinentia pigmemti is often associated with neonatal onset,female patients are common and mainly manifested as four typical skin lesions along the Blaschko line.There was no significant difference between male and female patients.2.About 1/3 of IP patients have family history,IKBKG gene mutation is the main cause of IP,of which the most common type was the deletion of IKBKG gene 4-10（82.9%）.