{"title":"Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the <i>COL7A1</i> gene: A case report.","authors":"Yan Yang, Zhi-Wei Guan, Qin-Feng Li","doi":"10.12998/wjcc.v13.i11.99256","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case summary: </strong>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 35<sup>th</sup> intron region of <i>COL7A1</i>, 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.</p><p><strong>Conclusion: </strong>Dystrophic epidermolysis bullosa caused by a new framework shift mutation in <i>COL7A1</i> should be taken seriously.</p>","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":"13 11","pages":"99256"},"PeriodicalIF":1.0000,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718571/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Clinical Cases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.12998/wjcc.v13.i11.99256","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
The World Journal of Clinical Cases (WJCC) is a high-quality, peer reviewed, open-access journal. The primary task of WJCC is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of clinical cases. In order to promote productive academic communication, the peer review process for the WJCC is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCC are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in clinical cases.
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