父子同患斑驳病1例报告
摘要
1临床资料患儿男,4个月。因前额、腹部、双小腿胫前白斑3月来我科门诊就诊。患儿出生后20余天后于前额、腹部、双小腿胫前皮肤出现不规则白斑,伴有前额部白发,白斑范围不随患儿增长变大,但白斑中央渐出现小片岛状色素过度沉着区。查体：一般情况可,生长发育无异常。
出处
《皮肤病与性病》
2016年第1期68-69,共2页
Dermatology and Venereology
参考文献3
-
1Spritz RA, Giebel LB, Holmes SA, Dominant Negative and Loss of Function Mutations of the e-kit ( Mast/Stem Cell Growth Factor Re- ceptor) Proto- On cogenein Human Piebaldism Am [ J ] . J. Hum. Genet, 1992, (50) :261-269,.
-
2Yoshida H, Kunisada T, Grimm T, etal. Review : melanocy temigra. tion and surviva controlled by SCF/c-kit expression [ J ]. J Invest Der- matol SympProc, 2001, (6) : 1-5.
-
3杨蓉,冯永山.KIT基因突变与斑驳病的研究进展[J].黑龙江医药,2010,23(6):929-931. 被引量：4
二级参考文献21
-
1Spritz RA,Giebel LB,and Holmes SA.Dominant Negative and Loss of Function Mutations of the c-kit(Mast/Stem Cell Growth Factor Receptor) Proto-Oncogene in Human Piebaldism Am[J].J.Hum.Genet.1992;50:261-269.
-
2Yarden Y,Kuang WJ,et al.Human proto-oncogene c-kit:a new cell surface receptor tyrosine kinase for an unidentified ligand[J].The EMBO Journal 1987;6:3341-3351.
-
3Orfao A,et al.Recent advances in understanding of mastocytosis:the role of KIT mutations[J].British Journal of Haematology.2007;138:12-30.
-
4Broudy VC,Lin NL,Sabath DF.The fifth immunoglobulin-like domain of the Kit receptor is required for proteolytic cleavage from the cell surface[J].Cytokine.2001;15:188-195.
-
5Grichnik JM.Kit and Melanocyte Migration[J].Journal of Investigative Dermatology.2006;126:945–947.
-
6Tosaki H,Kunisada T,et al.Mice Transgenic for KitV620A:Recapitulation of Piebaldism but not Progressive Depigmentation Seen in Humans with this Mutation[J].Journal of Investigative Dermatology.2006;126:1111–1118.
-
7Thomas AJ,Erickson CA.The making of a melanocyte:the specification of melanoblasts from the neural crest[J].Pigment Cell Melanoma Res.2008;21:598–610.
-
8Luo R,Gao J,Wehrle Haller B,et al.Molecular identification of distinct neurogenic and melanogenic neural crest sublineages[J].Development.2003;130:321-330.
-
9Dessinioti C,Stratigos AJ,et al.A review of genetic disorders of hypopigmentation:Lessons learned from the biology of melanocytes[J].Experimental Dermatology.2009;18:741–749.
-
10Yoshida H,Kunisada T,Grimm T,et al.Review:melanocyte migration and survival controlled by SCF/ c-kit expression[J].J Invest Dermatol Symp Proc,2001;6:1-5.
共引文献3
-
1朱艳菲,张廷荣,孙金海.红褐色乌苏里貉和吉林白貉KIT基因第二外显子的克隆及多态性分析[J].华北农学报,2013,28(5):80-83. 被引量：6
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2何蕊纯,何玉华,孟岩,赵金权.三种色型(野生色型、白色型、红褐色型)乌苏里貉的遗传学研究进展[J].吉林农业科技学院学报,2016,25(1):54-56. 被引量：1
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3何蕊纯,何玉华,孟岩,王春清.MC1R在三种色型乌苏里貉皮肤组织中的表达与定位研究[J].黑龙江畜牧兽医,2016(10):247-250. 被引量：1
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1段晓涵,张蕊娜,王莉.家族性慢性良性天疱疮1例及家系图[J].中国中西医结合皮肤性病学杂志,2012,11(1):51-51.
-
2南明芬,徐寅广,徐伯海.父子同患寻常型银屑病及其父伴发寻常型天疱疮1家系[J].中华腹部疾病杂志,2005,5(9):633-633.
-
3张更建,袁伟,张信江.毛囊角化病1例[J].中国皮肤性病学杂志,2008,22(3):190-191. 被引量：2
-
4陈伟,魏雅娟,杨娜,杨丽红,柴煊,卢方静.弥漫性掌跖角化病1例[J].武警医学,2007,18(5):370-370.
-
5杨仕平.父子同患孢子丝菌病随访报告[J].岭南皮肤性病科杂志,2000,7(3):42-42.
-
6石磊,李欣,王秀丽,王宏伟.痤疮合并马拉色菌毛囊炎28例临床分析[J].中国皮肤性病学杂志,2010,24(11):1066-1067. 被引量：5
-
7叶有兴,陈明春.父子同患系统性红斑狼疮[J].岭南皮肤性病科杂志,2007,14(3):184-185.
-
8刘瑞玉,郑敏,张淑瑛.遗传性对称性色素异常症1例报告[J].中国麻风皮肤病杂志,2002,18(2):160-160.
-
9刘素琴,赵天恩.毛囊黏蛋白病一例[J].中国麻风皮肤病杂志,2016,32(1):38-39.
-
10赵志勇,郭在培,蒋献.一家3例同患肠病性肢端皮炎[J].华西医学,1998,13(3):337-338. 被引量：1
