CAJ | 학술논문

【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。
【목적】탐토색소실금증환인림상특정，제고대해병적인식。【방법】대본원2004년1월지2013년12월수치적색소실금증11례환인림상특점진행분석。【결과】11례환인중10례위녀성，1례남성，2례위쌍포태조산인。11례균유피부수루，신경계통수루발생량궐2례，안부수루2례。6예외주혈기산성립세포수비례명현승고，4례행피부활검，병리결과포내유대량기산성세포지지진단，1례핵전록인자κB필수조절기（NEMO）기인결실。【결론】색소실금증시일충소견적 X련쇄적현성유전병，신생인기피부손해현저，가루급다계통，안부급신경계통병변엄중，응득도조기진단；피부병리화염색체적기인분석시학진방법，응대환인진행정기수방。
[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.