Li ZD, Rong L, He YJ, Ji YZ, Li X, Song FZ, Li XA. Exome analysis for Cronkhite-Canada syndrome: A case report. World J Clin Cases 2022; 10(24): 8634-8640 [PMID: 36157825 DOI: 10.12998/wjcc.v10.i24.8634]
Corresponding Author of This Article
Xiao-An Li, MD, Chief Doctor, Department of Gastroenterology, Mianyang Central Hospital, Mianyang Central Hospital, No. 12 Jingzhong Road, Fucheng District, Mianyang City 621000, Sichuang Province, China. 435445611@qq.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
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. Aug 26, 2022; 10(24): 8634-8640 Published online Aug 26, 2022. doi: 10.12998/wjcc.v10.i24.8634
Exome analysis for Cronkhite-Canada syndrome: A case report
Zhao-Dong Li, Li Rong, Yuan-Jing He, Yu-Zhu Ji, Xiang Li, Fang-Zhou Song, Xiao-An Li
Zhao-Dong Li, Yuan-Jing He, Xiao-An Li, Department of Gastroenterology, Mianyang Central Hospital, Mianyang Central Hospital, Mianyang 621000, Sichuan Province, China
Zhao-Dong Li, Basic Medicine College, Chongqing Medical University, Chongqing Medical University, Chongqing 410000, China
Li Rong, Department of Gastroenterology, Bishan Hospital of Chongqing Medical University/Bishan Hospital of Chongqing, Chongqing 402760, Sichuan Province, China
Yu-Zhu Ji, Department of Pathology, Mianyang Central Hospital, Mianyang 621000, Sichuan Province, China
Xiang Li, Department of Cardiovascular Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing 410000, China
Fang-Zhou Song, Basic Medicine College, Chongqing Medical University, Chongqing City 410000, China
Author contributions: Li ZD and He YJ treated the patient and drafted the manuscript; Rong L and Ji YZ performed the exon sequencing work; Li X helped to search for references; Zhou SF and Li XA performed data retrieval and helped with drafting of the manuscript; all authors read and approved the final manuscript.
Informed consent statement: Informed consent was obtained from the patient’s family for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare no conflicts of interest.
CARE Checklist (2016) statement: This case report conforms to the CARE Checklist (2016) statement.
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: Xiao-An Li, MD, Chief Doctor, Department of Gastroenterology, Mianyang Central Hospital, Mianyang Central Hospital, No. 12 Jingzhong Road, Fucheng District, Mianyang City 621000, Sichuang Province, China. 435445611@qq.com
Received: August 7, 2021 Peer-review started: August 7, 2021 First decision: November 7, 2021 Revised: December 11, 2021 Accepted: June 24, 2022 Article in press: June 24, 2022 Published online: August 26, 2022 Processing time: 373 Days and 12.4 Hours
Abstract
BACKGROUND
Cronkhite-Canada syndrome (CCS) is a rare, non-genetic disorder characterized by multiple gastrointestinal polyps, and ectodermal lesions such as alopecia, fingernail atrophy, and skin mucosal pigmentation. Unfortunately, the pathogenesis of CCS is currently unknown.
CASE SUMMARY
Here, we describe the case of an elderly female with diarrhea, fatigue, and hair loss, who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps. She was diagnosed with CCS and was treated with albumin supplementation and prednisone, and her electrolyte imbalance was corrected. Following treatment, her symptoms significantly improved. To elucidate the role of potential genetic events in the pathogenesis of CCS, we performed exome sequencing using an extract of her colorectal adenoma.
CONCLUSION
Our data revealed multiple somatic mutations and copy number variations. Our findings provide a novel insight into the potential mechanisms of CCS etiology.
Core Tip: Cronkhite-Canada syndrome (CCS) is a rare, non-genetic disorder characterized by multiple gastrointestinal polyps, ectodermal lesions including alopecia, fingernail atrophy, and skin mucosal pigmentation. However, its pathogenesis is unclear. We performed exome sequencing in an elderly female patient and obtained somatic mutations in the hope that these data could provide a genetic perspective on the pathogenesis of CCS.
