幼年黄色肉芽肿伴发多发性咖啡斑5例临床及遗传学分析  

Clinical and Genetic Analysis of 5 Cases of Juvenile Xanthogranuloma with Multiple Café-au-lait Macules

作　　者：吴红巾 杨潇 宋闯 王申 杨苏[1] 李敏 骆丹[2] WU Hongjin;YANG Xiao;SONG Chuang;WANG Shen;YANG Su;LI Min;LUO Dan(Department of Dermatology,Children's Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Dermatology,the First Affiliated of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属儿童医院皮肤科,江苏南京210008 [2]南京医科大学第一附属医院皮肤科,江苏南京210029

出　　处：《中国皮肤性病学杂志》2023年第12期1389-1394,共6页The Chinese Journal of Dermatovenereology

摘　　要：目的 探讨幼年黄色肉芽肿伴发多发性咖啡斑的临床表现与基因突变情况。方法 对5例幼年黄色肉芽肿伴发多发性咖啡斑患儿的临床资料与基因检测结果进行回顾性分析并复习相关文献。结果 5例患儿幼年黄色肉芽肿发病中位年龄为8个月,最小1个月,最大10岁,其中4例小于1岁。男女比例为2∶3。4例幼年黄色肉芽肿皮损多发,头面部多见;1例累及眼部。随访1~3年后幼年黄色肉芽肿大部分自行缓解。5例患儿多发性咖啡斑平均发病年龄为2.4个月,皮损分布全身,随访1~3年5例均出现腋窝和/或腹股沟雀斑。全身体检可见2例眼距宽,1例先天性斜视。5例患儿基因检测均可见NF1基因突变,1例来源于母亲,4例为自发突变。2例移码突变,1例剪接,1例无义,1例错义。5例均为致病性突变。结论 幼年黄色肉芽肿伴发多发性咖啡斑对于1型神经纤维瘤病(neurofibromatosis type1,NF1)诊断有预测价值,5例患儿均有NF1基因突变,突变类型多样。Objective To evaluate the clinical manifestations and genetic mutations of juvenile xanthogranuloma(JXG)with multiple café-au-lait macules.Methods We retrospectively analyzed the clinical data and genetic tests of 5 children with JXG and multiple café-au-lait macules and reviewed the relevant literature.Results The median age of onset of JXG in five children was 8 months,with the youngest being 1 month and the oldest 10 years.Four cases were younger than 1 year old.The male:female ratio was 2:3.Four cases had multiple JXG lesions,mostly on the scalp and face.One case involved the eye.All five children had multiple café-au-lait macules with a mean age of 2.4 months and a generalized distribution,and all five cases had axillary and inguinal freckles at 1-3 years of follow-up.Two cases had wide eye spacing and one case had congenital strabismus.All 5 children had mutations in the NF1 gene,1 from the mother,4 spontaneous mutations.Two cases of frameshift mutations,one case of splicing,one case of nonsense,and one case of missense.All 5 cases had pathogenic mutations.Conclusion JXG with multiple café-au-lait macules has a predictive value for the diagnosis of NF1,and all five children with JXG had NF1 gene mutations with various mutation types.

关 键 词：幼年黄色肉芽肿 咖啡斑 NF1 基因突变 

分 类 号：R758.6[医药卫生—皮肤病学与性病学] R739.4[医药卫生—临床医学]