Clinical analysis of neonatal incontinentia pigmenti

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 ①All IP infants in our hospital were female, and they all had typical skin lesions(100%), one of them(25%) had respectively a positive family history and teeth dysplasia(cone) and alopecia areata, none had abnormality in physical, intellectual and audio-visual development. ②The ratio of males and females was 1/9 in 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. Key words: Neonatal; Incontinentia pigmenti; Disease attributes