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To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. A 6-month-old girl was referred with large hemangiomas on the left side of the face. In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen. Morning glory disk anomaly was seen in the left fundus. Intraocular pressure (IOP) was 28 mmHg in the right eye and 15 mmHg in the left eye. Brain computed tomography (CT) scan demonstrated Dandy-Walker malformation. In the CT angiography of the thoracic arteries, coarctation of aorta in descending part, the aberrant origin of the left subclavian artery from the end of the aortic arch, and anomalous origin of the left vertebral artery from the posterior aspect of the aortic arch were found. Therefore, the presence of large facial hemangioma, posterior fossa anomaly, aortic arch anomalies, and morning glory disk confirmed the diagnosis of PHACE(S) syndrome. Propranolol (0.5 mg/kg/day) was initiated to treat hemangioma and coarctation of aorta. Due to uncontrolled glaucoma, goniotomy was performed in the right eye 3 months after the first visit. One year after the initial visit, the hypotropia and esotropia of the right eye considerably decreased. To our knowledge, this report was the first report of a pattern like Brown’s syndrome (may be called apparent Brown’s syndrome) and the second report of the congenital glaucoma in a case of PHACE(S) syndrome. In addition, the anomalous origin of the vertebral artery from the aortic arch has not been reported in the PHACE(S) syndrome. Thus, the clinicians should perform the glaucoma work-up for each patient with this syndrome.

Background PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. Objective To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. Materials and methods A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Results Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Conclusion Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

There is an increased risk of cerebrovascular accidents (CVA) in individuals with PHACES, yet the precise causes are not well understood. In this analysis, we aimed to examine the role of arteriopathy in PHACES syndrome as a potential contributor to CVA. We analyzed clinical and radiological data from 282 patients with suspected PHACES syndrome. We analyzed clinical features, including the presence of infantile hemangioma and radiological features based on magnetic resonance angiography or computed tomography angiography, in individuals with PHACES syndrome according to the Garzon criteria. To analyze intravascular blood flow, we conducted a simulation based on the Fluid–Structure Interaction (FSI) method, utilizing radiological data. The collected data underwent statistical analysis. Twenty patients with PHACES syndrome were included. CVAs were noted in 6 cases. Hypoplasia (p = 0.03), severe tortuosity (p < 0.01), absence of at least one main cerebral artery (p < 0.01), and presence of persistent arteries (p = 0.01) were associated with CVAs, with severe tortuosity being the strongest predictor. The in-silico analysis showed that the combination of hypoplasia and severe tortuosity resulted in a strongly thrombogenic environment. Severe tortuosity, combined with hypoplasia, is sufficient to create a hemodynamic environment conducive to thrombus formation and should be considered high-risk for cerebrovascular accidents (CVAs) in PHACES patients.

The acronym PHACES stands for posterior fossa malformations, hemangiomas, arterial anomalies (cardiovascular or cerebrovascular), coarctation of the aorta/cardiac defects, eye abnormalities, and sternal defects. The characteristic dermatological clinical manifestation of PHACES syndrome is a segmental and extensive hemangioma, usually on the face. A combined therapy with 1,064 nm Nd-YAG/595-nm pulsed dye laser was performed in a young 15-year-old patient with PHACES syndrome, who presented a hemangioma on the left side of the face, located in the periorbital region. A first session with Nd-YAG laser (2,5 mm spot size, fluence 100 J/cm2, pulse duration 7 ms) for the treatment of teleangectasias and subsequently, three treatment sessions with pulsed dye laser (12 mm spot size, fluence 7 J/cm2, pulse duration 0,5 ms, repetition rate 0,6 Hz), once every 2 months, were performed. No postoperative complications were recorded, except for transient purpura after the pulsed dye laser sessions. The vascular lesion had a decrease in size bigger than 75%, and these results was maintained 6 months after the last treatment. Combined therapy Nd- YAG/pulsed dye laser is an effective and noninvasive procedure for hemangiomas in patients with PHACES syndrome.

PHACE syndrome rarely occurs in patients with infantile hemangioma (IH) but is common in patients with segmental IH involving the head and face. PHACE syndrome involves at least one system abnormality, including arterial abnormalities, structural brain abnormalities, cardiovascular abnormalities, eye abnormalities, and ventral or midline abnormalities. The pathogenesis of PHACE syndrome remains unclear, and it affects various systems in diverse ways. Oral propranolol has good effects on patients with PHACE syndrome. However, there are great challenges in the management of patients with PHACE syndrome in the later stage, including headaches, stroke, neurodevelopment impairment, psychosocial impacts, and poor quality of life. Therefore, this review summarizes the epidemiology, risk factors, pathogenesis, clinical manifestations, diagnosis, treatment, and complications of PHACE syndrome. The latest research on and therapeutic prospects for PHACE syndrome are also discussed.

Dear Editor, PHACE(S) syndrome is a neurocutaneous disorder associated with segmental infantile hemangiomas (IHs). These hemangiomas typically manifest as rapidly growing lesions on the face or upper trunk. However, this case presents an unusual phenotype – an IH with minimal or arrested growth (IHMAG). [...]

Introduction PHACE syndrome is a neurocutaneous syndrome characterized by large facial segmental hemangiomas as the most typical manifestation. Its prevalence in East Asian is not well studied. Methods The retrospective study included 98 infants with facial segmental hemangiomas who underwent brain MRI/MRA, cardiac ultrasound, and ophthalmology examinations. The prevalence along with documentation of its clinical characteristics of PHACE syndrome was analyzed. Results Among 98 patients, 5 (5.1%) were diagnosed with “definite” PHACE, while none (0.0%) exhibited “possible” PHACE. Most patients with PHACE syndrome had 2 or more segments, of which the frontotemporal segment was most frequently involved. Structural brain anomalies were identified in two patients, four exhibited cerebrovascular anomalies, four displayed cardiovascular anomalies, and two presented ocular anomalies. Following standardized oral propranolol therapy, all patients showed significant regression. One patient received laser treatment for a residual hemangioma. Conclusion The prevalence of PHACE syndrome in facial segmental hemangiomas was 5.1%, predominantly characterized by anomalies in the cerebrovascular and cardiovascular systems. Collaborative multidisciplinary diagnosis and treatment are critical for PHACE patients.

Subglottic hemangioma is a potentially life-threatening manifestation of the PHACES syndrome. The disease process has been treated with corticosteroids, oral chemotherapeutic agents, endoscopic airway interventions, tracheostomy, and even laryngotracheal reconstruction. Oral propranolol has emerged as an effective therapy and in many cases has led to complete regression of hemangioma during the proliferative phase. There have been several reports of patients showing signs of reproliferation after discontinuing propranolol therapy. This article illustrates a patient who has had multiple episodes of reproliferation of subglottic hemangioma after weaning from propranolol therapy.

PHACES is the acronym describing the phenotypic association of posterior fossa anomalies, facial hemangioma, cardiac and eye anomalies, and sternal defects. To date, more than 300 cases of PHACE(S) have been reported. We present the case of a newborn girl who was born with a variant of the PHACES syndrome. Although the sternal cleft and the small facial hemangioma were evident clinically at birth, magnetic resonance imaging of the brain provided additional information to establish the diagnosis. In addition, the patient manifested later with hemihypertrophy, an association that has not been described previously.

A 4-day-old girl with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome comprising a facial haemangioma, aortic coarctation at the aortic arch, torturous aortic aneurysm distal to coarctation, and ductus arteriosus originating proximal to the coarctation is presented. The aortic arch was successfully reconstructed without cardiopulmonary bypass, and she is currently doing well after 4 years and 8 months.