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

摘要： 目的 经过回顾性分析13例色素失禁症(incontinentia pigmenti, IP)在新生儿期典型的临床表现, 探讨新生儿色素失禁的临床特点及核因子kappa-B必不可少的调节基因(the nuclear factor Kappa-B essential modulator gene, NEMO gene )突变。方法 分析2005年1月-2014年8月西安市儿童医院收治的13例新生儿色素失禁症患儿的临床特点及4例患儿的NEMO基因突变检测结果。结果 13例患儿中只有1例男性。典型皮疹生后即可被发现或者生后不久出现, 主要表现为红斑水疱期和色素沉着期。6例患儿外周血的嗜酸性粒细胞计数显著增加。6例皮肤活检显示嗜酸性粒细胞皮肤浸润与皮肤海绵层水肿伴随着色素失禁症特征性的一些凋亡细胞(角化不良细胞)。 3例患儿有癫痫, 其中2个伴有视网膜血管发育异常和闭塞。4例女性患儿确认与NEMO基因突变有关。结论 色素失禁症(IP)是X连锁显性遗传性疾病, 主要影响外胚层组织, 大多为女性病人, 男性病人少见。基因分析显示, NEMO基因的外显子4-10缺失与色素失禁症有关。

关键词: 色素失禁症, 新生儿, NEMO, 临床分析