Yang Y, Guan ZW, Li QF. Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report. World J Clin Cases 2025; 13(11): 99256 [DOI: 10.12998/wjcc.v13.i11.99256]
Corresponding Author of This Article
Qin-Feng Li, Professor, Department of Dermatology, Tianjin Children’s Hospital, No. 225 Machang Road, Hexi District, Tianjin 300074, China. lyz20061217@sina.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. Apr 16, 2025; 13(11): 99256 Published online Apr 16, 2025. doi: 10.12998/wjcc.v13.i11.99256
Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report
Yan Yang, Zhi-Wei Guan, Qin-Feng Li
Yan Yang, Department of Nursing, Tianjin Children’s Hospital, Tianjin 300074, China
Zhi-Wei Guan, Qin-Feng Li, Department of Dermatology, Tianjin Children’s Hospital, Tianjin 300074, China
Author contributions: Yang Y and Guan ZW designed the research study; Yang Y, Guan ZW, and Li QF performed the research; Yang Y, Guan ZW, and Li QF analyzed the data and wrote the manuscript; and all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient for 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: Qin-Feng Li, Professor, Department of Dermatology, Tianjin Children’s Hospital, No. 225 Machang Road, Hexi District, Tianjin 300074, China. lyz20061217@sina.com
Received: July 18, 2024 Revised: November 25, 2024 Accepted: December 10, 2024 Published online: April 16, 2025 Processing time: 161 Days and 0.3 Hours
Abstract
BACKGROUND
Dystrophic epidermolysis bullosa is characterized by fragile ulcerations of the skin caused by mutations in specific genes. However, genetic typing of this condition is rare.
CASE SUMMARY
An 11-year-old female suffered from recurrent fever, visible ulcerations of the entire skin, and severe malnutrition. Genetic testing revealed a frameshift mutation in the coding region 4047 of the 35th intron region of COL7A1, and she was diagnosed as malnutrition-type epidermolysis bullosa. Drug therapy (immunoglobulin, fresh frozen plasma), topical therapy (silver ion dressing), fever reduction, cough relief, and promotion of gastrointestinal peristalsis are mainly used for respiratory and gastrointestinal complications. The patient’s condition improved after treatment.
CONCLUSION
Dystrophic epidermolysis bullosa caused by a new framework shift mutation in COL7A1 should be taken seriously.
Core Tip: A new frameshift mutation in the COL7A1 gene caused dystrophic epidermolysis bullosa (DEB). Genetic testing of the patient showed a frameshift mutation in the coding region 4047 of the 35th intron of the COL7A1 gene, which was improved after symptomatic drug treatment. Indicating the role of genetic testing in DEB diagnosis and providing clinical data for DEB gene therapy.
