[1]陈慧,冯永芳.伴BRAF-V600E基因突变的婴儿朗格汉斯组织细胞增生症1例[J].中国皮肤性病学杂志,2019,(10):1168-1170.[doi:10.13735/j.cjdv.1001-7089.201810113]
 CHEN Hui,FENG Yongfang.A Case of Infant Langerhans Cell Histiocytosis with BRAF-V600E Gene Mutation[J].The Chinese Journal of Dermatovenereology,2019,(10):1168-1170.[doi:10.13735/j.cjdv.1001-7089.201810113]
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2019年10期
页码:
1168-1170
栏目:
病例报告
出版日期:
2019-09-13

文章信息/Info

Title:
A Case of Infant Langerhans Cell Histiocytosis with BRAF-V600E Gene Mutation
文章编号:
1001-7089(2019)10-1168-03
作者:
陈慧冯永芳
武汉市第一医院皮肤科,湖北 武汉 43000
Author(s):
CHEN HuiFENG Yongfang
(Department of Dermatology,Wuhan NO.1 Hospital,Wuhan 430000,China)
关键词:
朗格汉斯组织细胞增生症 BRAF基因V600E 突变
Keywords:
Langerhans cell histiocytosis BRAF geneV600E Mutation
分类号:
R 758.6
DOI:
10.13735/j.cjdv.1001-7089.201810113
文献标志码:
B
摘要:
患儿女,6个月,躯干、四肢肤色丘疹3个月。皮肤科情况:躯干、四肢见多数米粒至绿豆大小的肤色丘疹,部分皮疹中央可见坏死、结痂,伴有散在淡白色素减退斑。皮损组织病理示:真皮乳头层可见密集的上皮样细胞浸润; 免疫组织化学示:CD1a(3+),S100(3+),基因检测:BRAF基因外显子15c.1799T>A,p.(Va1600G1u)突变检测阳性。诊断:朗格汉斯组织细胞增生症。
Abstract:
A 6-month-old girl presented papules on the trunk and the limbs for three months.Physical examination showed skin-colored papules sized from rice to green beans,and hypopigmented macules on the trunk and the limbs with central necrosis and crusts.Pathological examination showed dense infiltrate of epithelioid cells in the papillary layer of the dermis.Immunohistochemical staining showed positive for CD1a and S100.Gene detection showed mutation of BRAF gene exon 15c.1799T>A,p.(Va1600G1u).The diagnosis was langerhans cell histiocytosis.

参考文献/References:

[1] Haupt R,Minkov M,Astigarraga I,et al.Langerhans cell histiocytosis(LCH):guidelines for diagnosis,clinical work-up,and treatment for patiems till the age of 18 years[J].Pediatr Blood Cancer,2013,60(2):175-184.
[2] 朱学骏,王宝玺,孙建方,等.皮肤病学[M].北京:北京大学医学出版社,2011:1721.
[3] Badalian-Very G,Vergilio JA,Degar BA,et al.Recurrent BRAF mutations in Langerhans cell histiocytosis[J].Blood,2010,116(11):1919-1923.
[4] 曹静,李君惠,刘嵘,等.儿童朗格汉斯细胞组织细胞增生症的BRAF V600E基因突变与临床相关性研究[J].中国医刊,2016,51(8):77-80.
[5] 张莉,廉红云,马宏浩,等.BRAF基因V600E突变在儿童朗格罕细胞组织细胞增生症中的临床意义[J].中国小儿血液与肿瘤杂志,2017,22(4):190-193.
[6] 唐雪,郭霞,孙林雍,等.儿童朗格汉斯细胞组织细胞增生症的BRAF-V600E基因突变及临床意义[J].中国当代儿科杂志,2018,20(4):290-294.
[7] Berres ML,Lim KP,Peters T,et al.BRAF-V600E expression in precursor versus differentiated dentritic cells defines cliniclly distinct LCH risk groups[J].J Exp Med,2014,211(4):669-683.

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备注/Memo

备注/Memo:
[作者单位] 武汉市第一医院皮肤科,湖北 武汉 43000
更新日期/Last Update: 2019-09-12