Suppr超能文献

两名兄弟姐妹可能患长嶋型掌跖角化病。

Possible nagashima-type palmoplantar keratosis in two siblings.

作者信息

Park Kio, Kabashima Kenji, Miyachi Yoshiki

机构信息

Department of Dermatology, Yamato Takada Municipal Hospital, Nara, Kyoto, Japan.

出版信息

Case Rep Dermatol. 2013 Mar 4;5(1):58-60. doi: 10.1159/000350052. Print 2013 Jan.

Abstract

Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings had non-affected parents, suggesting that the mode of inheritance was autosomal recessive. At present, reports on PPK in the English literature are limited, and thus the clinical features of Nagashima-type PPK may not be well appreciated in Western countries. More reports and concise clinical observations with genetic studies are required to establish this new entity of PPK.

摘要

长岛型掌跖角化病(PPK)是一种常染色体隐性、进行性和非进展性的PPK。它曾被描述为轻度型梅勒达病,但现在被认为是PPK的一种新类型。由于其发病机制尚不清楚,明确其遗传方式很重要。在此,我们报告2例可能为长岛型PPK的同胞病例。这对同胞的父母未患病,提示其遗传方式为常染色体隐性。目前,英文文献中关于PPK的报道有限,因此西方国家可能对长岛型PPK的临床特征认识不足。需要更多的报道以及结合基因研究的简明临床观察来确立PPK的这一新类型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9afe/3617887/6ad4c1349e0e/cde-0005-0058-g01.jpg

相似文献

1
Possible nagashima-type palmoplantar keratosis in two siblings.两名兄弟姐妹可能患长嶋型掌跖角化病。
Case Rep Dermatol. 2013 Mar 4;5(1):58-60. doi: 10.1159/000350052. Print 2013 Jan.
5
Nagashima-type palmoplantar keratoderma: Case series and two novel variants.
Pediatr Dermatol. 2023 Sep-Oct;40(5):882-885. doi: 10.1111/pde.15265. Epub 2023 Jan 31.
7
Mal De Meleda with Flexural Involvement.伴有屈侧受累的梅勒达病
Indian Dermatol Online J. 2022 Sep 5;13(5):636-639. doi: 10.4103/idoj.idoj_236_22. eCollection 2022 Sep-Oct.

本文引用的文献

1
A familial case of Nagashima-type palmoplantar keratosis.
Eur J Dermatol. 2010 Jul-Aug;20(4):507-8. doi: 10.1684/ejd.2010.0950. Epub 2010 Jun 14.
2
'Nagashima-type' keratosis palmoplantaris in two siblings.
J Eur Acad Dermatol Venereol. 2009 Jun;23(6):737-8. doi: 10.1111/j.1468-3083.2009.03206.x. Epub 2009 Mar 10.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验