关键词: 色素失禁症, 新生儿, NEMO, 临床分析

Abstract: Objective To investigate the clinical characteristics of newborns incontinentia pigmenti (IP) and the nuclear factor Kappa-B essential modulator (NEMO) gene mutations, by retrospective analysis of 13 cases of IP typical clinical manifestations in the neonatal period. Method From January 2005 to August 2014 in Xi'an Children's Hospital, clinical characteristics of 13 cases of newborn infants with IP and four cases with NEMO gene mutation were analyzed. Results There were only one male children within 13 cases.A typical rash was found or developed soon after birth, mainly as erythema, blisters and in-like pigmentation.The eosinophil count in peripheral blood was significantly increased in six cases.Skin biopsy of 6 patients demonstrated dermal eosinophilic infiltrates with spongiosis and some apoptotic (dyskeratotic) cells characteristic of IP.Three patients with epilepsy, included two cases associated with retinal vascular abnormalities and occlusion.4 cases of female patients confirmed with NEMO gene mutational. Conclusions IP is an X-linked dominant condition primarily affecting ectodermal tissue, mostly female patients, male patient is rare.Genetic analysis revealed that a deletion of exon 4-10 in NEMO gene is associate with IP.

Key words: incontinentia pigmenti, neonatal, NEMO, clinical analysis