色素失禁症11例临床特征分析

【目的】探讨色素失禁症患儿临床特征，提高对该病的认识。【方法】对本院2004年1月至2013年12月收治的色素失禁症11例患儿临床特点进行分析。【结果】11例患儿中10例为女性，1例男性，2例为双胞胎早产儿。11例均有皮肤受累，神经系统受累发生惊厥2例，眼部受累2例。6例外周血嗜酸性粒细胞数比例明显升高，4例行皮肤活检，病理结果疱内有大量嗜酸性细胞支持诊断，1例核转录因子κB必需调节器（NEMO）基因缺失。【结论】色素失禁症是一种少见的 X连锁的显性遗传病，新生儿期皮肤损害显著，可累及多系统，眼部及神经系统病变严重，应得到早期诊断；皮肤病理和染色体的基因分析是确诊方法，应对患儿进行定期随访。

Analysis of Clinical Features of 1 1 Cases of Incontinentia Pigmenti

[Objective]To explore clinical features of incontinentia pigmenti（IP）in children in order to im-prove the awareness of the disease.[Methods]Clinical features of 1 1 pediatric patients with IP in our hospital from Jan.2004 to Dec.2013 were analyzed.[Results]Among 11 pediatric patients,10 patients were female and 1 patient was male.Two patients were premature twins.Eleven patients had skin involvement.Two pa-tients had nerve system involvement and convulsion.Two patients had eye involvement.The percentage of eo-sinophils in peripheral blood of 6 patients was obviously increased.Skin pathological biopsy of 4 patients showed a large of eosinophils in vesication to confirm the diagnosis.Gene deletion of nuclear factor kB essential regulator（NEMO）was detected in 1 patient.[Conclusion]IP is a rare x-linked dominant genetic disease.The dominant feature in neonatal period is skin lesion.It can be involve in multiple systems.Eye and nervous sys-tem lesions are serious.Skin pathology and chromosomal genetic analysis are the methods of definite diagno-sis.Pediatric patients should be followed up regularly.