{"title":"台湾一个家族中COL7A1基因的新型杂合子错义变异导致的自发性萎缩性表皮松解症。","authors":"Yi-Chia Tsai, Wei-Ting Tu, Chun-Lin Su, Yu-Wen Cheng, Pei-Ling Chi, Chao-Kai Hsu, Yang-Yi Chen","doi":"10.1111/wrr.13159","DOIUrl":null,"url":null,"abstract":"<p><p>Self-improving dystrophic epidermolysis bullosa (DEB) is a genodermatosis that is inherited autosomal dominantly or recessively, and its clinical symptoms may improve or subside spontaneously. Herein, we report a case of self-improving DEB with COL7A1 p.Gly2025Asp variant. The diagnosis was made through histopathological, electron microscopic examination, and genetic testing. The same variant is also noted on his father, who presents with dystrophic toenails without any blisters. This study highlights that idiopathic nail dystrophy could be linked to congenital or hereditary disease. Furthermore, we conducted a review of the literature on the characteristics of reported cases of self-improving DEB with a personal or family history of nail dystrophy. The results supported our findings that nail dystrophy may be the sole manifestation in some family members. We suggest that individuals suffering from idiopathic nail dystrophy may seek genetic counselling when planning pregnancy to early evaluate the potential risk of hereditary diseases.</p>","PeriodicalId":23864,"journal":{"name":"Wound Repair and Regeneration","volume":" ","pages":"511-516"},"PeriodicalIF":3.8000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family.\",\"authors\":\"Yi-Chia Tsai, Wei-Ting Tu, Chun-Lin Su, Yu-Wen Cheng, Pei-Ling Chi, Chao-Kai Hsu, Yang-Yi Chen\",\"doi\":\"10.1111/wrr.13159\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Self-improving dystrophic epidermolysis bullosa (DEB) is a genodermatosis that is inherited autosomal dominantly or recessively, and its clinical symptoms may improve or subside spontaneously. Herein, we report a case of self-improving DEB with COL7A1 p.Gly2025Asp variant. The diagnosis was made through histopathological, electron microscopic examination, and genetic testing. The same variant is also noted on his father, who presents with dystrophic toenails without any blisters. This study highlights that idiopathic nail dystrophy could be linked to congenital or hereditary disease. Furthermore, we conducted a review of the literature on the characteristics of reported cases of self-improving DEB with a personal or family history of nail dystrophy. The results supported our findings that nail dystrophy may be the sole manifestation in some family members. We suggest that individuals suffering from idiopathic nail dystrophy may seek genetic counselling when planning pregnancy to early evaluate the potential risk of hereditary diseases.</p>\",\"PeriodicalId\":23864,\"journal\":{\"name\":\"Wound Repair and Regeneration\",\"volume\":\" \",\"pages\":\"511-516\"},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Wound Repair and Regeneration\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/wrr.13159\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/28 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Wound Repair and Regeneration","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/wrr.13159","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/28 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
自发性萎缩性表皮松解症(DEB)是一种常染色体显性或隐性遗传的遗传性皮肤病,其临床症状可自行改善或消退。在此,我们报告了一例伴有 COL7A1 p.Gly2025Asp 变异的自我改善型 DEB 病例。该病例通过组织病理学、电子显微镜检查和基因检测确诊。他的父亲也出现了同样的变异,表现为萎缩性脚趾甲,但没有任何水疱。这项研究强调,特发性甲营养不良症可能与先天性或遗传性疾病有关。此外,我们还对文献进行了回顾,以了解有指甲营养不良症个人史或家族史的自发性甲营养不良症病例的特征。结果支持了我们的发现,即指甲营养不良可能是某些家族成员的唯一表现。我们建议特发性甲营养不良症患者在计划怀孕时可寻求遗传咨询,以尽早评估遗传疾病的潜在风险。
Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family.
Self-improving dystrophic epidermolysis bullosa (DEB) is a genodermatosis that is inherited autosomal dominantly or recessively, and its clinical symptoms may improve or subside spontaneously. Herein, we report a case of self-improving DEB with COL7A1 p.Gly2025Asp variant. The diagnosis was made through histopathological, electron microscopic examination, and genetic testing. The same variant is also noted on his father, who presents with dystrophic toenails without any blisters. This study highlights that idiopathic nail dystrophy could be linked to congenital or hereditary disease. Furthermore, we conducted a review of the literature on the characteristics of reported cases of self-improving DEB with a personal or family history of nail dystrophy. The results supported our findings that nail dystrophy may be the sole manifestation in some family members. We suggest that individuals suffering from idiopathic nail dystrophy may seek genetic counselling when planning pregnancy to early evaluate the potential risk of hereditary diseases.
期刊介绍:
Wound Repair and Regeneration provides extensive international coverage of cellular and molecular biology, connective tissue, and biological mediator studies in the field of tissue repair and regeneration and serves a diverse audience of surgeons, plastic surgeons, dermatologists, biochemists, cell biologists, and others.
Wound Repair and Regeneration is the official journal of The Wound Healing Society, The European Tissue Repair Society, The Japanese Society for Wound Healing, and The Australian Wound Management Association.