Prevalence and Patient Characteristics of Pachyonychia Congenita.
作者信息
Andersen Sara Rønde, Herlin Laura Krogh, Schmidt Sigrun A J, Sommerlund Mette
机构信息
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
出版信息
JAMA Dermatol. 2024 Dec 1;160(12):1364-1366. doi: 10.1001/jamadermatol.2024.3727.
Abstract
摘要
相似文献
1
Prevalence and Patient Characteristics of Pachyonychia Congenita.先天性厚甲症的患病率及患者特征
JAMA Dermatol. 2024 Dec 1;160(12):1364-1366. doi: 10.1001/jamadermatol.2024.3727.
2
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.13例先天性厚甲症患者中，编码角蛋白K6a、K16和K17的基因出现新的和复发性突变。
J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x.
3
Pachyonychia congenita with late onset (PC tarda).迟发型先天性厚甲症（PC tarda）。
Indian Dermatol Online J. 2016 Jul-Aug;7(4):278-80. doi: 10.4103/2229-5178.185463.
4
Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.先天性厚甲症的喉部表现：1例临床病例及对耳鼻喉科医生管理方法的讨论
J Laryngol Otol. 2017 Jul;131(S2):S53-S56. doi: 10.1017/S0022215116008264. Epub 2016 Oct 20.
5
Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.先天性厚甲症项目：通过合作推进研究与药物开发。
Keio J Med. 2025 Mar 25;74(1):61-66. doi: 10.2302/kjm.2023-0015-IR. Epub 2023 Dec 8.
7
First case of pachyonychia congenita in the Czech Republic.捷克共和国先天性厚甲症首例病例。
Dermatol Ther. 2015 Jan-Feb;28(1):10-2. doi: 10.1111/dth.12142. Epub 2014 Aug 29.
8
[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].[先天性厚甲症合并肾动脉狭窄和支气管扩张]
Pan Afr Med J. 2016 Jul 1;24:183. doi: 10.11604/pamj.2016.24.183.9284. eCollection 2016.
9
Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.NRF2 诱导剂治疗先天性厚甲症模型中的性别二态性。
J Invest Dermatol. 2018 May;138(5):1094-1100. doi: 10.1016/j.jid.2017.09.054. Epub 2017 Dec 24.
10
Pachyonychia congenita with laryngeal obstruction.先天性厚甲症伴喉梗阻
Pediatr Dermatol. 2011 Jul-Aug;28(4):429-32. doi: 10.1111/j.1525-1470.2011.01232.x. Epub 2011 May 10.
本文引用的文献
1
Pachyonychia Congenita: Clinical Features and Future Treatments.先天性厚甲症：临床特征与未来治疗方法
Keio J Med. 2025 Mar 25;74(1):52-60. doi: 10.2302/kjm.2023-0012-IR. Epub 2023 Sep 28.
2
Can skin disease cause neuropathic pain? A study in pachyonychia congenita.皮肤病会引发神经性疼痛吗？一项关于先天性厚甲症的研究。
Clin Exp Dermatol. 2016 Jan;41(1):26-33. doi: 10.1111/ced.12723. Epub 2015 Sep 11.
3
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.254 例遗传性先天性厚甲症患者的临床表型综述。
J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.
4
The phenotypic and molecular genetic features of pachyonychia congenita.先天性厚甲症的表型和分子遗传学特征。
J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24.
Zotero 插件