Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, U.K.
Br J Dermatol. 2015 Jul;173(1):242-6. doi: 10.1111/bjd.13588. Epub 2015 May 18.
Posterior fossa malformations-haemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a rare neurocutaneous disorder. Children presenting with these manifestations need careful ophthalmological, cardiac and neurological assessment. They may have one or more of these extracutaneous manifestations, the most common being cerebral and cardiovascular anomalies. There is controversy about treating these children with propranolol especially if they have cerebrovascular involvement with narrow, dysplastic or absent blood vessels. The concern with propranolol is that hypotension may lead to reduced cerebral blood flow and neurological consequences. Prior to propranolol the systemic treatment for haemangiomas was prednisolone and then the concern was the opposite, namely hypertension. Our proposal was whether a combination of these two drugs would provide a safer and faster recovery. We report three retrospective cases of PHACES syndrome, each of whom received treatment with a combination of propranolol and prednisolone: two children were started on prednisolone and propranolol was added because the haemangiomas failed to respond adequately; the third child was started on propranolol and developed peripheral ischaemia and ulceration necessitating a reduction in dose addition of a low dose of prednisolone. All three patients, who failed on the one treatment, responded well to combination therapy without any significant complications. These outcomes suggest that for some patients with PHACES syndrome the use of combination treatment with propranolol and prednisolone could be advantageous, potentially allowing for the introduction of low doses of each with an enhanced combined effect. The doses can be increased gradually depending on the magnetic resonance imaging findings.
后颅窝畸形-血管瘤-动脉异常-心脏缺陷-眼部异常-胸骨裂和脐上嵴带综合征（也称为 PHACES 综合征）是一种罕见的神经皮肤疾病。出现这些表现的儿童需要仔细的眼科、心脏和神经系统评估。他们可能有一个或多个这些皮肤外表现，最常见的是脑和心血管异常。对于这些儿童使用普萘洛尔治疗存在争议，特别是如果他们有脑血管受累，伴有狭窄、发育不良或不存在血管。使用普萘洛尔的担忧是低血压可能导致脑血流减少和神经系统后果。在普萘洛尔之前，血管瘤的全身治疗是泼尼松龙，然后担心的是相反的情况，即高血压。我们的建议是，这两种药物的联合使用是否会提供更安全、更快的恢复。我们报告了 3 例 PHACES 综合征的回顾性病例，他们每人都接受了普萘洛尔和泼尼松龙联合治疗：2 名儿童开始接受泼尼松龙治疗，因血管瘤反应不佳而添加普萘洛尔；第 3 名儿童开始接受普萘洛尔治疗，出现外周缺血和溃疡，需要减少剂量并添加低剂量泼尼松龙。所有在一种治疗中失败的 3 名患者对联合治疗反应良好，没有任何严重并发症。这些结果表明，对于一些 PHACES 综合征患者，使用普萘洛尔和泼尼松龙联合治疗可能是有利的，可能允许引入低剂量的两种药物，并具有增强的联合效果。剂量可以根据磁共振成像结果逐渐增加。
