色素失禁症11例临床特征分析 |
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引用本文: | 马海欣,张红爱,赵玉娟,于淑群. 色素失禁症11例临床特征分析[J]. 医学临床研究, 2014, 0(5): 890-892 |
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作者姓名: | 马海欣 张红爱 赵玉娟 于淑群 |
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作者单位: | 陕西省西安市儿童医院新生儿科,陕西西安710003 |
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摘 要: | 【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。
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关 键 词: | 遗传性疾病 X连锁 皮肤疾病 婴儿 新生 疾病 |
Analysis of Clinical Features of 1 1 Cases of Incontinentia Pigmenti |
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Affiliation: | MA Hai-xin, ZHANG Hong-ai, ZHAO Yu-juan, et al ( Department of Neonatology ,CTildren's Hospital of Xi'an City, Xi'an 710003, (Ynina ) |
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Abstract: | [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. |
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Keywords: | IGenetic Diseases,X-Linked Skin Diseases Infant,Newborn,Diseases |
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