'PHACE' on the 'face'.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL BMJ Case Reports Pub Date : 2025-01-19 DOI:10.1136/bcr-2024-263878
Ie Lien Romero, Chia Saw, Noel David Friesen
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Abstract

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.

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‘face’上的‘face’。
婴儿血管瘤是婴儿出生后几个月内的常见表现。大多数血管瘤是良性的;然而,较大的血管瘤(≥5厘米),特别是那些累及面部的血管瘤,可能表明更严重的潜在神经皮肤疾病,称为PHACE(后窝畸形、血管瘤、动脉异常、主动脉缩窄/心脏缺陷和眼睛异常)综合征。作者报告了一个不寻常的情况下,可能的PHACE综合征在一个年轻的男性幼儿与一个大的面部血管瘤。诊断和治疗PHACE综合征是一项复杂的任务,因为它需要多学科的方法,对临床表现的认识,并获得标准化的指导方针来处理大的面部血管瘤。我们将讨论临床评估和诊断方法,以PHACE综合征在西澳大利亚州的一个大都市儿科门诊设置。
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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
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.
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