{"title":"一名患有 DOCK6 基因突变的新生儿手部出现不完全浅掌弓和坏疽。","authors":"Aisha Naaz, Shahbaj Ahmad, Saikat Patra, Girish Gupta","doi":"10.1136/bcr-2024-261264","DOIUrl":null,"url":null,"abstract":"<p><p>The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene. This baby presented with blackish discolouration and gangrene on the left hand, primarily affecting the little, ring, middle and index fingers. Timely intervention with antibiotics and heparinisation led to salvage of the ring, middle and index fingers, while the little finger underwent auto-amputation. On clinical exome sequencing, the baby was found to have DOCK6 mutation. This case highlights the importance of vascular involvement in DOCK6 mutation and the need for careful evaluation and management in cases of incomplete superficial palmar arch.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Incomplete superficial palmar arch and gangrene in the hand in a neonate with DOCK6 mutation.\",\"authors\":\"Aisha Naaz, Shahbaj Ahmad, Saikat Patra, Girish Gupta\",\"doi\":\"10.1136/bcr-2024-261264\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene. This baby presented with blackish discolouration and gangrene on the left hand, primarily affecting the little, ring, middle and index fingers. Timely intervention with antibiotics and heparinisation led to salvage of the ring, middle and index fingers, while the little finger underwent auto-amputation. On clinical exome sequencing, the baby was found to have DOCK6 mutation. This case highlights the importance of vascular involvement in DOCK6 mutation and the need for careful evaluation and management in cases of incomplete superficial palmar arch.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"17 11\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-11-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2024-261264\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-261264","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Incomplete superficial palmar arch and gangrene in the hand in a neonate with DOCK6 mutation.
The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene. This baby presented with blackish discolouration and gangrene on the left hand, primarily affecting the little, ring, middle and index fingers. Timely intervention with antibiotics and heparinisation led to salvage of the ring, middle and index fingers, while the little finger underwent auto-amputation. On clinical exome sequencing, the baby was found to have DOCK6 mutation. This case highlights the importance of vascular involvement in DOCK6 mutation and the need for careful evaluation and management in cases of incomplete superficial palmar arch.
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.