Kindler综合征1家系临床及基因突变报道

doi:10.35541/cjd.20210111

中华皮肤科杂志 ›› 2024, Vol. 57 ›› Issue (4): 370-372.doi: 10.35541/cjd.20210111

Kindler综合征1家系临床及基因突变报道

凌鸣^1，2 孔祥平^1，3 黄芙蓉¹ 徐俊¹ 赵梦华¹ 黄丽¹ 张爱民¹

¹湖南省人民医院（湖南师范大学第一附属医院）儿童呼吸病学湖南省重点实验室，长沙 410000；²岳阳市中心医院儿童重症医学科，岳阳 414000；³黔西南布依族苗族自治州妇幼保健院新生儿科，兴义 562409

收稿日期:2021-02-01 修回日期:2023-06-28 发布日期:2024-04-07
通讯作者: 张爱民 E-mail:lilly610@sina.com
基金资助:
湖南省科技创新人才计划湖湘高层次人才聚集工程创新团队项目（2021RC5014）

A case of Kindler syndrome: clinical and genetic analysis

Ling Ming^1,2, Kong Xiangping^1,3, Huang Furong¹, Xu Jun¹, Zhao Menghua¹, Huang Li¹, Zhang Aimin¹

¹Hunan Provincial People′s Hospital and the First Affiliated Hospital of Hunan Normal University, Human Provincial Key Laboratory of Pediatric Respirology, Changsha 410000, China; ²Department of Pediatric Intensive Care Medicine, Yueyang Central Hospital, Yueyang 414000, Hunan, China; ³Department of Neonatology, Maternal and Child Health Care Hospital of Qiannan Buyi and Miao Autonomous Prefecture, Xingyi 562409, Guizhou, China

Received:2021-02-01 Revised:2023-06-28 Published:2024-04-07
Contact: Zhang Aimin E-mail:lilly610@sina.com
Supported by:
Hunan Science and Technology Innovation Talent Plan Huxiang High-level Talent Gathering Engineering Innovation Team Project（2021RC5014）

摘要/Abstract

摘要： Kindler 综合征（Kindler syndrome，KS，OMIM 173650），又称伴大疱的先天性皮肤异色症，是一种罕见的常染色体隐性遗传性皮肤病……

关键词: Kindler 综合征, FERMT1 基因, 新生儿, 新变异

Key words: Kindler syndrome, the FERMT1 gene, newborn, new mutation

凌鸣孔祥平黄芙蓉徐俊赵梦华黄丽张爱民. Kindler综合征1家系临床及基因突变报道[J]. 中华皮肤科杂志, 2024,57(4):370-372. doi:10.35541/cjd.20210111

Ling Ming, Kong Xiangping, Huang Furong, Xu Jun, Zhao Menghua, Huang Li, Zhang Aimin. A case of Kindler syndrome: clinical and genetic analysis[J]. Chinese Journal of Dermatology, 2024, 57(4): 370-372.doi:10.35541/cjd.20210111

参考文献 10

［1］	Jobard F, Bouadjar B, Caux F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome［J］. Hum Mol Genet, 2003,12（8）:925⁃935. doi: 10.1093/hmg/ddg097.
［2］	Suman N, Kaur S, Kaur S, et al. Kindler′s syndrome: a rare case report［J］. Contemp Clin Dent, 2014,5（2）:217⁃220. doi: 10. 4103/0976⁃237X.132342.
［3］	Barbosa NM, Visioli F, Martins MD, et al. Oral manifestations in Kindler syndrome: case report and discussion of literature findings［J］. Spec Care Dentist, 2016,36（4）:223⁃230. doi: 10. 1111/scd.12165.
［4］	El Hachem M, Diociaiuti A, Proto V, et al. Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree［J］. Eur J Dermatol, 2015,25（1）:14⁃19. doi: 10.1684/ejd.2014. 2457.
［5］	Souldi H, Bajja MY, Mahtar M. Kindler syndrome complicated by invasive squamous cell carcinoma of the palate［J］. Eur Ann Otorhinolaryngol Head Neck Dis, 2018,135（1）:59⁃61. doi: 10. 1016/j.anorl.2017.05.003.
［6］	Fischer IA, Kazandjieva J, Vassileva S, et al. Kindler syndrome: a case report and proposal for clinical diagnostic criteria［J］. Acta Dermatovenerol Alp Pannonica Adriat, 2005,14（2）:61⁃67.
［7］	林志淼, 谭燕红, 马志红, 等. 一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析［J］. 中华皮肤科杂志, 2010,43（10）:677⁃679. doi: 10.3760/cma.j.issn.0412⁃4030.2010.10. 002.
［8］	Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin⁃1, a human homolog of the Caenorhabditis elegans actin⁃extracellular⁃matrix linker protein UNC⁃112, causes Kindler syndrome［J］. Am J Hum Genet, 2003,73（1）:174⁃187. doi: 10.1086/376609.
［9］	Fuchs⁃Telem D, Nousbeck J, Singer A, et al. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome［J］. Clin Exp Dermatol, 2014,39（3）:361⁃367. doi: 10.1111/ced.12222.
［10］	Has C, Castiglia D, del Rio M, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history［J］. Hum Mutat, 2011,32（11）:1204⁃1212. doi: 10.1002/humu.21576.

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Kindler综合征1家系临床及基因突变报道

A case of Kindler syndrome: clinical and genetic analysis

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