Liao MY, Peng H, Li LN, Yang T, Xiong SY, Ye XY. Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report. World J Clin Cases 2023; 11(6): 1403-1409 [PMID: 36926140 DOI: 10.12998/wjcc.v11.i6.1403]
Corresponding Author of This Article
Xiao-Ying Ye, Doctor, Chief Physician, Professor, Department of Dermatology, First Affiliated Hospital of Gannan Medical University, No. 23 Qingnian Road, Zhanggong District, Ganzhou 341000, Jiangxi Province, China. 13870768166@139.com
Research Domain of This Article
Dermatology
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. Feb 26, 2023; 11(6): 1403-1409 Published online Feb 26, 2023. doi: 10.12998/wjcc.v11.i6.1403
Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report
Ming-Yi Liao, Hui Peng, Long-Nian Li, Tao Yang, Shi-Yin Xiong, Xiao-Ying Ye
Ming-Yi Liao, Long-Nian Li, Tao Yang, Shi-Yin Xiong, Xiao-Ying Ye, Department of Dermatology, First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China
Hui Peng, Department of Dermatology, Ganzhou People's Hospital, Ganzhou 341000, Jiangxi Province, China
Author contributions: Liao MY and Peng H contributed to manuscript writing and editing, and data collection; Li LN and Yang T contributed to data analysis; Ye XY and Xiong SY contributed to medical history collection; all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the participants for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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-Ying Ye, Doctor, Chief Physician, Professor, Department of Dermatology, First Affiliated Hospital of Gannan Medical University, No. 23 Qingnian Road, Zhanggong District, Ganzhou 341000, Jiangxi Province, China. 13870768166@139.com
Received: November 10, 2022 Peer-review started: November 10, 2022 First decision: December 13, 2022 Revised: December 26, 2022 Accepted: February 7, 2023 Article in press: February 7, 2023 Published online: February 26, 2023 Processing time: 105 Days and 19.6 Hours
Core Tip
Core Tip: We report on a Chinese family with hidrotic ectodermal dysplasia (HED), with patients in the family presenting varying degrees of hair dysplasia, nail dysplasia, and palmoplantar hyperkeratosis. In addition, we performed a literature review of other reported HED genotypes and their corresponding phenotypes, which lays a foundation for subsequent studies on these associations. Overexpression vectors of the GJB6 gene and its variants (variation sites: c.31G>A, c.263C>T, c.110T>A) were established and transfected into a HaCaT cell model. The expression changes of related mRNA and proteins before and after gene editing were obtained by real-time reverse transcriptase-polymerase chain reaction and Western blot, respectively, to provide clues for subsequent pathogenesis studies.
