Posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies (PHACES) syndrome is a rare, multi-system disorder that stands for posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies. It can also be associated with hearing and endocrine abnormalities. Its prevalence is remarkably low, as it is seen in less than one per million individuals. Though its etiology is unknown, a segmental infantile hemangioma is often the presenting finding and warrants further investigation. We illustrate a case of a 1-month-old female with high clinical suspicion for PHACES syndrome. Furthermore, we provide an illustrative series of photographs that chronicles the progression of our patient’s segmental hemangioma. This case highlights the syndrome’s complexity and underscores the significance of having a high index of clinical suspicion, educating providers on its earliest and most subtle signs, and reviewing its overall management.

A 1-month-old female with no prior medical history presented to the emergency room for an enlarging, left-sided hemangioma associated with obstruction and swelling of the left upper eyelid. Per the patient’s mother, she developed a small pinkish-red spot on the left temple at one week old, which progressed in size and density over the next several weeks (Figure 1). She also had pectus excavatum, noted by her pediatrician, but it had been less prominent as the patient properly gained weight. Upon obtaining a review of systems, it was elicited that the patient recently exhibited shortness of breath with prolonged feeding times. Physical examination showed a well-demarcated red-violaceous, telangiectatic, dense plaque segmentally distributed over the V1 region. Differential diagnoses at the time included infantile hemangioma, Sturge-Weber syndrome, and PHACES syndrome. Given the large size of the lesion (>5 cm), the concern for PHACES syndrome was high, and further workup was recommended to evaluate for extracutaneous involvement, including an echocardiogram, chest X-ray, and abdominal X-ray. An electroencephalogram was pursued in lieu of magnetic resonance imaging (MRI) to rule out acute posterior fossa abnormalities as the patient was hemodynamically stable, with the intent to pursue an MRI at a later time. An echocardiogram later revealed coarctation of the aorta with a reduced lumen of less than 2 mm, patent foramen ovale, and a small muscular ventricular septal defect. The echoencephalogram, chest X-ray, and abdominal X-ray returned with normal findings. Her complete extracutaneous findings are documented (Figure 2). She was transferred to a pediatric cardiothoracic surgical center to undergo open heart surgery for repair of the aortic coarctation. While undergoing care at that facility, she was initiated on oral propranolol therapy with weight-based dosing; her hemangioma has shown promising involution since its initiation.

Posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies (PHACES) syndrome is a neurocutaneous disorder with neurological, arterial, cardiothoracic, and ocular implications [1]. The acronym “PHACE” was first described by Frieden and colleagues and later changed to PHACES to include sternal defects, as identified by Boulinguez and colleagues in 1996 [2]. Its etiology is not fully understood, though it is known to have female predominance with a 9:1 ratio [3].

In 2009, the diagnostic criteria for PHACES were established, encompassing a segmental hemangioma >5 cm on the face, neck, or scalp, plus one major criterion or two minor criteria (Table 1). Our patient met diagnostic criteria for PHACES given her V1 segmental infantile hemangioma >5 cm plus the presence of three major criteria, namely coarctation of the aorta, pectus excavatum, and left retinal arterial dysplasia. Her full involvement is outlined (Figure 2).

While infantile hemangioma is the most common benign tumor of infancy, PHACES syndrome compromises only 2–3% of infantile hemangioma cases [2]. According to one retrospective cohort study, higher-risk features that can hint at a potential PHACES patient include infantile hemangiomas involving 3 or more locations and a surface area of 25 cm2 or greater [4]. The comprehensive list of extracutaneous findings associated with PHACES is extensive and outlined (Figure 3), with the most common being cerebrovascular (91%), brain (52%), and cardiovascular (91%) [2]. Coarctation of the aorta, as seen in our patient, is responsible for 19–30% of cerebrovascular accidents and is associated with an accordingly increased risk [3]. One study attempted to stratify the risk of acute ischemic stroke (AIS) in patients diagnosed with PHACES into 3 different groups—high risk, intermediate risk, and low risk. Low risk for AIS involves arterial anomalies that can be commonly found in the normal population, such as anomalous arterial origins. Intermediate risk includes findings of nonstenotic dysgenesis or narrowing of arteries proximal to the Circle of Willis, while high risk includes greater than 25% narrowing of principal cerebral vessels within or above the Circle of Willis [5]. Our patient will be closely monitored for stroke-like symptoms, and we expect a gradual improvement of her hemangioma with weight-based propranolol dosing.

Long-term outcomes for PHACES syndrome are poorly described. Due to the variable prognosis, it is important to appropriately screen patients who present with a large hemangioma, especially in a segmental distribution. Initial workup should involve obtaining a comprehensive history and physical examination, with particular attention to ocular abnormalities and sternal midline defects. A screening echocardiogram should also be standard, with subsequent cardiac MRI/magnetic resonance angiography (MRA) if abnormalities are identified [5]. Additional workup includes MRI/MRA of the head and neck. Treatment should be multidisciplinary, as it is highly dependent on the organ system of involvement. For instance, for children with a high-risk arterial anomaly, daily aspirin prophylaxis against acute ischemic stroke can be considered. For infantile hemangiomas, oral propranolol remains the mainstay of therapy. Additional treatment options, such as systemic steroids, surgical excision, or laser therapy, can also be considered. Specialists who may be involved include dermatologists, ophthalmologists, neurologists, cardiologists, endocrinologists, cardiothoracic surgeons, neurosurgeons, and plastic surgeons, to name a few.

Posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies (PHACES) syndrome is a rare neurocutaneous disorder associated with various major organ system complications and portends varying prognoses. Early identification and intervention are crucial in optimizing outcomes and preventing severe cerebrovascular and cardiovascular events. Notably, dermatological manifestations can be the initial indicators of this syndrome, highlighting the critical role of dermatologists in early detection and prevention. Therefore, the presence of a segmental hemangioma should raise suspicion for PHACES syndrome and prompt a thorough evaluation. Proactive consideration can lead to more effective treatments and improve long-term outcomes for this patient population.