{"title":"‘face’上的‘face’。","authors":"Ie Lien Romero, Chia Saw, Noel David Friesen","doi":"10.1136/bcr-2024-263878","DOIUrl":null,"url":null,"abstract":"<p><p>Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma. Diagnosing and managing PHACE syndrome is a complex task, as it requires a multidisciplinary approach, awareness of the clinical presentation and access to standardised guidelines to approach large facial haemangiomas. We will discuss the clinical assessment and diagnostic approach to PHACE syndrome in a metropolitan paediatric outpatient setting in Western Australia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"'PHACE' on the 'face'.\",\"authors\":\"Ie Lien Romero, Chia Saw, Noel David Friesen\",\"doi\":\"10.1136/bcr-2024-263878\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma. Diagnosing and managing PHACE syndrome is a complex task, as it requires a multidisciplinary approach, awareness of the clinical presentation and access to standardised guidelines to approach large facial haemangiomas. We will discuss the clinical assessment and diagnostic approach to PHACE syndrome in a metropolitan paediatric outpatient setting in Western Australia.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"18 1\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-01-19\",\"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-2024-263878\",\"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-2024-263878","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma. Diagnosing and managing PHACE syndrome is a complex task, as it requires a multidisciplinary approach, awareness of the clinical presentation and access to standardised guidelines to approach large facial haemangiomas. We will discuss the clinical assessment and diagnostic approach to PHACE syndrome in a metropolitan paediatric outpatient setting in Western Australia.
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.