Wu X, Min XH, Xu HF, Ud Din MJ, Zhang G. Intersection of two rare conditions: Clinical reflection on tuberous sclerosis combined with primary lymphedema. World J Clin Cases 2025; 13(7): 99903 [DOI: 10.12998/wjcc.v13.i7.99903]
Corresponding Author of This Article
Gang Zhang, PhD, Associate Professor, Department of Neurology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210008, Jiangsu Province, China. zhanggangnjmu@126.com
Research Domain of This Article
Neurosciences
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Mar 6, 2025; 13(7): 99903 Published online Mar 6, 2025. doi: 10.12998/wjcc.v13.i7.99903
Intersection of two rare conditions: Clinical reflection on tuberous sclerosis combined with primary lymphedema
Xiao Wu, Xiao-Hui Min, Hai-Feng Xu, M Jalal Ud Din, Gang Zhang
Xiao Wu, Xiao-Hui Min, Gang Zhang, Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
Hai-Feng Xu, Department of Pediatrics, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong Province, China
M Jalal Ud Din, Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Author contributions: Wu X and Zhang G wrote the article, reviewed and approved the final manuscript; Xu HF contributed to the manuscript's design and editorial work; Ud Din MJ polished the language; Min XH contributed to the discussion in the manuscript; all authors have read and approved the final version.
Conflict-of-interest statement: All authors declare no conflict of interest in publishing the manuscript.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Gang Zhang, PhD, Associate Professor, Department of Neurology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210008, Jiangsu Province, China. zhanggangnjmu@126.com
Received: August 2, 2024 Revised: October 20, 2024 Accepted: November 15, 2024 Published online: March 6, 2025 Processing time: 114 Days and 23.8 Hours
Abstract
This editorial discusses a case report recently published in the World Journal of Clinical Cases. The report describes the clinical presentation, imaging, diagnosis, and treatment of a patient with tuberous sclerosis complex (TSC) combined with primary lymphedema (PLE). Additionally, it retrospectively analyzes the data of 16 previously reported cases of children with TSC combined with PLE to summarize the epidemiology, genetic diagnosis, and current main treatments of these patients. The report also speculates on the pathological and physiological mechanisms underlying TSC combined with PLE. TSC combined with PLE is rare; therefore, the report provides a theoretical basis for understanding the pathophysiological mechanisms and treatment options for patients with TSC and PLE. Comprehensive clinical management of TSC is essential due to the diverse and multiorgan nature of its manifestations, often requiring a multidisciplinary approach for newly diagnosed cases.
Core Tip: Accurate diagnosis of tuberous sclerosis complex (TSC) combined with primary lymphedema (PLE) is challenging due its rarity. Summarizing the clinical and imaging manifestations of TSC-PLE patients, along with molecular genetic studies, offers significant theoretical support for TSC-PLE.
