• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

早老症(哈钦森-吉尔福德综合征)伴硬皮病样病变和肢端骨质溶解:一例报告及文献简要综述

Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature.

作者信息

Jansen T, Romiti R

机构信息

Department of Dermatology, Ludwig-Maximilians-University of Munich, Munich, Germany.

出版信息

Pediatr Dermatol. 2000 Jul-Aug;17(4):282-5. doi: 10.1046/j.1525-1470.2000.01775.x.

DOI:10.1046/j.1525-1470.2000.01775.x
PMID:10990576
Abstract

Progeria infantum (Hutchinson-Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5-year-old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma-like areas over the trunk. Radiographic studies revealed coxa valga and acro-osteolysis of the terminal phalanges. The clinical and radiologic features corresponded well with progeria infantum.

摘要

婴儿早老症(哈钦森-吉尔福德综合征)是一种极为罕见的早衰综合征,其特征为生长发育迟缓以及皮肤和其他组织出现特定的、进行性的早衰变化。我们报告了一名1.5岁女童,她出现头皮毛发、眉毛和睫毛脱落,头皮静脉突出,小颌畸形,耳部异常,皮下组织缺失以及躯干出现硬皮病样区域。影像学研究显示髋外翻和末节指骨骨质溶解。临床和放射学特征与婴儿早老症高度相符。

相似文献

1
Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature.早老症(哈钦森-吉尔福德综合征)伴硬皮病样病变和肢端骨质溶解:一例报告及文献简要综述
Pediatr Dermatol. 2000 Jul-Aug;17(4):282-5. doi: 10.1046/j.1525-1470.2000.01775.x.
2
Hutchinson-Gilford progeria syndrome.哈钦森-吉尔福德早衰综合征。
Indian J Dermatol Venereol Leprol. 2010 Sep-Oct;76(5):591. doi: 10.4103/0378-6323.69094.
3
[Analysis of a case with typical Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes and review of literature].[一例伴有硬皮病样皮肤改变的典型早老症综合征病例分析及文献复习]
Zhonghua Er Ke Za Zhi. 2014 Feb;52(2):112-6.
4
Hutchinson-Gilford progeria syndrome.哈钦森-吉尔福德早衰综合征
J Med Assoc Thai. 1999 Jan;82(1):96-102.
5
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.一名7周大婴儿以皮肤紧绷和关节活动受限为早期表现的早老症(哈钦森-吉尔福德早衰症)
Eur J Pediatr. 2005 May;164(5):283-6. doi: 10.1007/s00431-005-1635-x. Epub 2005 Feb 22.
6
Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.由LMNA基因突变引起的哈钦森-吉尔福德早衰综合征:一例报告。
Pediatr Dermatol. 2015 Mar-Apr;32(2):271-5. doi: 10.1111/pde.12406. Epub 2014 Dec 29.
7
Lethal neonatal Hutchinson-Gilford progeria syndrome.
Am J Med Genet. 1999 Jan 29;82(3):242-8.
8
Hutchinson - Gilford progeria syndrome: A rare case report.哈钦森-吉尔福德早衰综合征:一例罕见病例报告。
Indian Dermatol Online J. 2014 Oct;5(4):478-81. doi: 10.4103/2229-5178.142507.
9
Hutchinson-Gilford Progeria syndrome: Report of the first Togolese case.哈钦森-吉尔福德早衰综合征:第一例多哥病例报告。
Am J Med Genet A. 2020 Jun;182(6):1316-1320. doi: 10.1002/ajmg.a.61581. Epub 2020 Apr 16.
10
Hutchinson-Gilford progeria syndrome in a 45-year-old man.
Am J Med. 1986 Jul;81(1):135-8. doi: 10.1016/0002-9343(86)90196-8.

引用本文的文献

1
Mesenchymal Stem Cell Therapy for Hutchinson-Gilford Progeria: Improvements in Arterial Stiffness and Bone Mineral Density in a Single Case.间充质干细胞疗法治疗哈钦森-吉尔福德早衰症:单病例动脉僵硬度和骨密度的改善
Children (Basel). 2025 Apr 18;12(4):523. doi: 10.3390/children12040523.
2
Immunologic and nonimmunologic sclerodermal skin conditions - review.免疫性和非免疫性硬皮病皮肤状况——综述。
Front Immunol. 2023 Jul 12;14:1180221. doi: 10.3389/fimmu.2023.1180221. eCollection 2023.
3
Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report.
使用磁共振血管造影术检测一名患有哈钦森-吉尔福德早衰综合征儿童的脑血管疾病:病例报告
J Korean Soc Radiol. 2022 Nov;83(6):1360-1365. doi: 10.3348/jksr.2022.0051. Epub 2022 Nov 10.
4
Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice.腺嘌呤碱基编辑器的瞬时表达纠正了亨廷顿舞蹈病-吉尔福德早衰综合征突变,并改善了小鼠的皮肤表型。
Nat Commun. 2022 Jun 2;13(1):3068. doi: 10.1038/s41467-022-30800-y.
5
Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria.成骨细胞分化过程中经典 β-连环蛋白信号减弱导致早衰症骨质疏松症。
J Bone Miner Res. 2018 Nov;33(11):2059-2070. doi: 10.1002/jbmr.3549. Epub 2018 Aug 1.
6
Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome.哈钦森-吉尔福德早衰综合征的初始皮肤表现。
Pediatr Dermatol. 2014 Mar-Apr;31(2):196-202. doi: 10.1111/pde.12284. Epub 2014 Jan 24.
7
Atypical presentation of scleroderma in infancy.婴儿期硬皮病的不典型表现。
Rheumatol Int. 2012 Apr;32(4):1069-74. doi: 10.1007/s00296-011-1803-4. Epub 2011 Feb 16.
8
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin.导致哈钦森-吉尔福德早衰综合征的截短型前体核纤层蛋白A的表皮表达:对角质形成细胞、毛发和皮肤的影响。
Hum Mol Genet. 2008 Aug 1;17(15):2357-69. doi: 10.1093/hmg/ddn136. Epub 2008 Apr 28.
9
Looking for disease being a model of human aging.寻找作为人类衰老模型的疾病。
Acta Myol. 2007 Oct;26(2):101-4.
10
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.一名7周大婴儿以皮肤紧绷和关节活动受限为早期表现的早老症(哈钦森-吉尔福德早衰症)
Eur J Pediatr. 2005 May;164(5):283-6. doi: 10.1007/s00431-005-1635-x. Epub 2005 Feb 22.