花斑眼镜蛇样鱼鳞病1例临床分析并文献复习  

Harlequin ichthyosis: clinical analysis of 1 case with literature review

作　　者：沈艳[1] 钟日胜 黄丽妮 杨通[1] 陈贵东[1] 

机构地区：[1]广州医科大学附属第四医院病理科,广东广州511447 [2]广州市番禺区何贤纪念医院病理科,广东广州511400

出　　处：《中国实用妇科与产科杂志》2016年第7期697-700,共4页Chinese Journal of Practical Gynecology and Obstetrics

摘　　要：目的探讨花斑眼镜蛇样鱼鳞病的临床病理特点、诊断、产前诊断和预防,以加强对该病的认识。方法对2014年广州医科大学附属第四医院收治的1例花斑眼镜蛇样鱼鳞病死婴,行临床资料分析、系统尸体解剖及常规病理检查,并复习相关文献。结果花斑眼镜蛇样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种最严重亚型,在出生时即发病,以全身被覆一层厚如盔甲样的灰白或灰黄色鳞屑并伴有显著的唇外翻和睑外翻为特征。皮肤超微结构特征性改变是出现异常板层小体和角质层细胞间缺乏板层结构。结论特征性临床病理表现是诊断花斑眼镜蛇样鱼鳞病的重要依据。因常为致死性,通过产前诊断阻断疾病在家系中遗传是预防该病的关键。Objective To investigate the clinicopathological features,diagnosis, prenatal diagnosis and prevention of Harlequin ichthyosis （HI） in order to enhance awareness of the disease. Methods A case of HI was studied and analyzed clinicopathologically and the related literatures were reviewed.Results As the most severe form of of autosomal re- cessive congenital ichthyosis（ARCI）,with onset at birth, HI is characterized by a severe phenotype at birth that shows col- lodion body with armorlike membrane,extreme ectmpion and eelabium. Skin uhrastructure findings were abnormal lamel- lar granules and paucity of secreted lamellar structures in stratum comeum.Conclusions HI has a characterized clinico- pathological presentation,which is valid for its correct diagnosis. Due to its fatality, the most effective prevention strategy for this disease is to block the heredity in the affected families by prenatal diagnosis.

关 键 词：花斑眼镜蛇样鱼鳞病 产前诊断 诊断 临床病理 

分 类 号：R714.5[医药卫生—妇产科学]