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伴BRAF-V600E基因突变的婴儿朗格汉斯组织细胞增生症1例

A Case of Infant Langerhans Cell Histiocytosis with BRAF-V600E Gene Mutation
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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:CDla(3+),S100(3+),基因检测:BRAF基因外显子15c.1799T>A,p.(Val600Glu)突变检测阳性。诊断:朗格汉斯组织细胞增生症。 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 CDla and S100. Gene detection showed mutation of BRAF gene exon 15c. 1799T > A,p.( Val600Glu). The diagnosis was langerhans cell histiocytosis.
作者 陈慧 冯永芳 CHEN Hui;FENG Yongfang(Department of Dermatology,Wuhan NO.1 Hospital,Wuhan 430000,China)
出处 《中国皮肤性病学杂志》 CAS CSCD 北大核心 2019年第10期1168-1170,共3页 The Chinese Journal of Dermatovenereology
关键词 朗格汉斯组织细胞增生症 BRAF基因V600E 突变 Langerhans cell histiocytosis BRAF geneV600E Mutation
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