• 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

巨脂性营养障碍:对局限性巨人症的临床与影像学见解

Macrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.

作者信息

Manuja Nishtha, Mohale Sandip, Khandelwal Shreya, Sood Anshul

机构信息

Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.

Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.

出版信息

Radiol Case Rep. 2024 Dec 7;20(2):1280-1283. doi: 10.1016/j.radcr.2024.11.029. eCollection 2025 Feb.

DOI:10.1016/j.radcr.2024.11.029
PMID:39720098
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11666888/
Abstract

A rare type of localized gigantism known as macrodystrophia lipomatosa is characterized by a disproportionate increase in fibroadipose tissues and a gradual overgrowth of all mesenchymal elements. The distribution in the lower extremities' plantar nerves and the upper extremity's median nerve is most commonly observed. This abnormality is congenital and typically manifests at birth or during the neonatal stage. This deformity begins to mechanically impair joint function, blood supply, and innervation as age advances. The findings from radiography include lucencies in the soft tissues and expansion of the digit's phalanges and soft tissue components, with predominantly distal component involvement. Herein, we present a case of a 20-year-old male from rural India who came to us with the complaint of abnormal asymmetrical swelling of bilateral hand fingers, which has been progressing since birth. Physical examination revealed a soft, non-fluctuant, non-pulsatile swelling with no associated trauma or injury. The clinical picture revealed disproportionate enlargement of phalanges in both hands.

摘要

一种罕见的局限性巨人症,称为脂肪性大发育异常,其特征是纤维脂肪组织不成比例地增加,所有间充质成分逐渐过度生长。最常观察到其在下肢足底神经和上肢正中神经的分布。这种异常是先天性的,通常在出生时或新生儿期出现。随着年龄的增长,这种畸形开始对关节功能、血液供应和神经支配造成机械性损害。X线检查结果包括软组织透亮区以及手指指骨和软组织成分的扩张,主要累及远端成分。在此,我们报告一例来自印度农村的20岁男性病例,他因双侧手指异常不对称肿胀前来就诊,这种肿胀自出生以来一直在进展。体格检查发现肿胀柔软,无波动感,无搏动,无相关创伤或损伤。临床检查显示双手手指指骨不成比例地增大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ce/11666888/b62386ef86d2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ce/11666888/c89bf88c0e56/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ce/11666888/b62386ef86d2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ce/11666888/c89bf88c0e56/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ce/11666888/b62386ef86d2/gr2.jpg

相似文献

1
Macrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.巨脂性营养障碍:对局限性巨人症的临床与影像学见解
Radiol Case Rep. 2024 Dec 7;20(2):1280-1283. doi: 10.1016/j.radcr.2024.11.029. eCollection 2025 Feb.
2
Macrodystrophia lipomatosa: radiographic diagnosis.巨脂性营养障碍:影像学诊断
AJR Am J Roentgenol. 1977 Jan;128(1):101-5. doi: 10.2214/ajr.128.1.101.
3
MACRODYSTROPHIA LIPOMATOSA WITH ULNAR DISTRIBUTION IN HAND: MR EVALUATION OF A RARE DISORDER.手部尺侧分布的巨脂性营养障碍:一种罕见疾病的磁共振成像评估
JBR-BTR. 2015 Jan-Feb;98(1):43-4. doi: 10.5334/jbr-btr.753.
4
Macrodystrophia Lipomatosa: A Rare Case of Ulnar Nerve Territory Involvement.巨脂性营养障碍:尺神经支配区域受累的罕见病例。
Indian J Radiol Imaging. 2023 Dec 28;34(3):545-548. doi: 10.1055/s-0043-1777745. eCollection 2024 Jul.
5
Macrodystrophia lipomatosa of finger-A rare case report.手指巨脂瘤——一例罕见病例报告
Radiol Case Rep. 2023 Feb 15;18(4):1613-1616. doi: 10.1016/j.radcr.2023.01.083. eCollection 2023 Apr.
6
Macrodystrophia Lipomatosa: A Rare Cause of Bilateral Lower Limb Gigantism.巨脂性营养障碍:双侧下肢巨大症的罕见病因。
Cureus. 2021 Oct 23;13(10):e18986. doi: 10.7759/cureus.18986. eCollection 2021 Oct.
7
Surgical Management of Macrodystrophia Lipomatosa, a rare case report of the left hand middle finger macrodactyly.巨指症的手术治疗,左手中指巨指症的罕见病例报告
Int J Surg Case Rep. 2021 Aug;85:106181. doi: 10.1016/j.ijscr.2021.106181. Epub 2021 Jul 7.
8
Macrodystrophia Lipomatosa: An Unusual Cause of Localized Gigantism.巨脂性营养障碍:局部巨大症的罕见病因。
Indian J Dermatol. 2016 May-Jun;61(3):347. doi: 10.4103/0019-5154.182469.
9
Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity.巨脂性营养不良:一项针对罕见病症的大型影像学研究
J Clin Imaging Sci. 2019 Feb 27;9:4. doi: 10.25259/JCIS-9-4. eCollection 2019.
10
Macrodystrophia lipomatosa: radiologic-pathologic correlation.巨脂性营养障碍:放射学与病理学的相关性
J Clin Imaging Sci. 2011;1:18. doi: 10.4103/2156-7514.78264. Epub 2011 Mar 22.

本文引用的文献

1
Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity.巨脂性营养不良:一项针对罕见病症的大型影像学研究
J Clin Imaging Sci. 2019 Feb 27;9:4. doi: 10.25259/JCIS-9-4. eCollection 2019.
2
Macrodystrophia Lipomatosa: Clinico-patho-radiological Correlation.巨脂性营养障碍:临床-病理-放射学相关性
Indian J Med Paediatr Oncol. 2017 Oct-Dec;38(4):559-562. doi: 10.4103/ijmpo.ijmpo_65_16.
3
A Review of Macrodystrophia Lipomatosa: Revisitation.巨脂性营养障碍的综述:再探讨
Arch Plast Surg. 2015 Jul;42(4):391-406. doi: 10.5999/aps.2015.42.4.391. Epub 2015 Jul 14.
4
Macrodystrophia lipomatosa of a fifth digit: a case report.第五指巨指脂肪营养不良:一例报告
Foot Ankle Spec. 2014 Oct;7(5):423-6. doi: 10.1177/1938640014527125. Epub 2014 Mar 30.
5
Macrodystrophia lipomatosa.巨脂性营养障碍
Arch Plast Surg. 2013 May;40(3):270-2. doi: 10.5999/aps.2013.40.3.270. Epub 2013 May 16.
6
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.肢端肥大症患者中 PIK3CA 的体细胞获得性功能突变。
Hum Mol Genet. 2013 Feb 1;22(3):444-51. doi: 10.1093/hmg/dds440. Epub 2012 Oct 24.
7
Macrodystrophia lipomatosa: four case reports.巨脂性肌营养不良症:四例报告。
Ital J Pediatr. 2010 Oct 22;36:69. doi: 10.1186/1824-7288-36-69.
8
Case Report: Macrodystrophia lipomatosa - Illustration of two cases.病例报告:巨脂性营养障碍——两例病例说明
Indian J Radiol Imaging. 2008 Nov;18(4):298-301. doi: 10.4103/0971-3026.43844.
9
Macrodystrophia lipomatosa with associated fibrolipomatous hamartoma of the median nerve.巨脂性营养不良伴正中神经纤维脂肪性错构瘤
Pediatr Surg Int. 2000;16(3):216-8. doi: 10.1007/s003830050728.
10
MR diagnosis of macrodystrophia lipomatosa.巨脂瘤性营养障碍的磁共振成像诊断
AJR Am J Roentgenol. 1992 Jun;158(6):1295-7. doi: 10.2214/ajr.158.6.1590127.