家族性网状内皮细胞增生症伴嗜酸性细胞增多1例  

A Case of Omenn Syndrome

作　　者：任发亮[1] 李咏梅[1] 余时娟 陈静思[1] 廖兰[1] 罗晓燕[1] 王华[1] 

机构地区：[1]重庆医科大学附属儿童医院皮肤科,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,重庆400014

出　　处：《中国皮肤性病学杂志》2016年第6期609-610,共2页The Chinese Journal of Dermatovenereology

摘　　要：患儿女,40d,全身潮红伴脱屑20余天。轻度腹泻,体重不增。查体:消瘦、秃发;全身皮肤浸润、潮红,多数片状鳞屑和糠状细碎鳞屑。辅助检查:外周血白细胞升高,嗜酸性粒细胞明显增多,B淋巴细胞缺如;低蛋白血症;血IgG,IgA,IgM极低,IgE显著升高。患儿50d时死亡。诊断:家族性网状内皮细胞增生症伴嗜酸性细胞增多。A d-O-day female infant presented with erythrodermia for 20d. She also suffered from mild, chronic diarrhea, and grew slowly. Emaciation and alopecia were observed. Physical examinations found generalized erythro- dermia accompanied by numerous foliated scales and branny scales. Blood routine tests suggested significantly elevated number of WBC and notable increase of eosinophilia. The immunological results displayed extremely decreased lgG, lgA,IgM ,but elevated lgE serum levels in peripheral blood. High virtual absent circulating B cells was observed. She died at her fiftieth day. The diagnosis of Omenn Syndrome was made clinically according to the above typical manifestations.

关 键 词：Omenn综合征 

分 类 号：R725.9[医药卫生—儿科]