KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例

doi:10.35541/cjd.20220294

中华皮肤科杂志 ›› 2024, Vol. 57 ›› Issue (7): 650-651.doi: 10.35541/cjd.20220294

KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例

谢骏逸^1，2 王雨蒙¹ 潘超兰¹ 李敏² 李明¹

¹上海交通大学医学院附属新华医院皮肤科，上海 200092；²南京医科大学附属儿童医院皮肤科，南京 210019
谢骏逸为上海交通大学医学院附属新华医院皮肤科进修医生，现在南京医科大学附属儿童医院皮肤科，南京 210019；李明现在复旦大学附属儿科医院皮肤科，上海 201102

收稿日期:2022-04-29 修回日期:2023-05-20 发布日期:2024-07-02
通讯作者: 李明 E-mail:mingli@fudan.edu.cn

A case of ichthyosis hystric Curth-Macklin type caused by a novel mutation in the KRT1 gene

Xie Junyi^1,2, Wang Yumeng¹, Pan Chaolan¹, Li Min², Li Ming¹

¹Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; ²Department of Dermatology, Children′s Hospital of Nanjing Medical University, Nanjing 210019, China
Xie Junyi was a refresher doctor in the Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, and is now working at the Department of Dermatology, Children′s Hospital of Nanjing Medical University, Nanjing 210019, China; Li Ming is now working at the Department of Dermatology, Children′s Hospital of Fudan University, Shanghai 201102, China

Received:2022-04-29 Revised:2023-05-20 Published:2024-07-02
Contact: Li Ming E-mail:mingli@fudan.edu.cn

摘要/Abstract

摘要： 患者男，23岁。足月顺产，父母非近亲结婚。出生时全身潮红脱屑，未见水疱。逐渐出现全身皮肤角化过度，四肢关节增大、掌跖部位尤为明显。掌跖角化增厚皮肤常伴皲裂、渗血，自觉疼痛、瘙痒，有异味……

谢骏逸王雨蒙潘超兰李敏李明. KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例[J]. 中华皮肤科杂志, 2024,57(7):650-651. doi:10.35541/cjd.20220294

Xie Junyi, Wang Yumeng, Pan Chaolan, Li Min, Li Ming. A case of ichthyosis hystric Curth-Macklin type caused by a novel mutation in the KRT1 gene[J]. Chinese Journal of Dermatology, 2024, 57(7): 650-651.doi:10.35541/cjd.20220294

参考文献 7

［1］	Huang X, Chen ZM, Yang Y. Homozygous nonsense mutation in SDR9C7 in a Chinese patient with autosomal recessive congenital ichthyosis［J］. Int J Dermatol Venerol, 2023,6（1）:52⁃54. doi: 10. 1097/JD9.0000000000000236.
［2］	Terrinoni A, Didona B, Caporali S, et al. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin［J/OL］. PLoS One, 2018,13（4）:e0195792. doi: 10.1371/journal.pone.0195792.
［3］	Yang Z, Xu Z, Zhang N, et al. A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth⁃Macklin［J］. Clin Exp Dermatol, 2020,45（6）:719⁃721. doi: 10.1111/ced.14193.
［4］	Kubo Y, Urano Y, Matsuda R, et al. Ichthyosis hystrix, Curth⁃Macklin type: a new sporadic case with a novel mutation of keratin 1［J］. Arch Dermatol, 2011,147（8）:999⁃1001. doi: 10. 1001/archdermatol.2011.217.
［5］	Sprecher E, Ishida⁃Yamamoto A, Becker OM, et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix［J］. J Invest Dermatol, 2001,116（4）:511⁃519. doi: 10.1046/j.1523⁃1747.2001.01292.x.
［6］	Richardson ES, Lee JB, Hyde PH, et al. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African⁃American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth⁃Macklin type［J］. J Invest Dermatol, 2006,126（1）:79⁃84. doi: 10.1038/sj.jid.5700025.
［7］	Fonseca DJ, Rojas RF, Vergara JI, et al. A severe familial phenotype of ichthyosis Curth⁃Macklin caused by a novel mutation in the KRT1 gene［J］. Br J Dermatol, 2013,168（2）:456⁃458. doi: 10.1111/j.1365⁃2133.2012.11181.x.

KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例

A case of ichthyosis hystric Curth-Macklin type caused by a novel mutation in the KRT1 gene

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