A 7-Week-Old Infant With a Large Facial Hemangioma

Adam R. Taintor, MD; Anna M. Juern, MD; Beth A. Drolet, MD

Disclosures

January 27, 2010

History and Clinical Presentation

A 7-week-old white infant girl presented to pediatric dermatology with a large facial hemangioma. The mother first noticed redness on the infant's left upper forehead at 2-3 days of age, and the lesion has been growing since that time. The pregnancy history was remarkable for oligohydramnios in the second and third trimesters and for maternal tobacco use. The patient was born at 39 weeks of gestation via cesarean section.

Family history. No other family member had a history of hypertension, stroke, hemangioma, or vascular anomalies.

Physical examination. A 5 x 9 cm, diamond-shaped, red vascular plaque was visible on the left frontotemporal segment (Figure). The left eye was closed by plaque. The infant's extraocular muscles were intact on the right. A 2-cm red, vascular plaque was present on the left preauricular scalp, and a 1-cm red, vascular plaque was visible on the inferior aspect of the tongue. The infant's heart had a regular rate and rhythm with a grade 2/6 systolic murmur at the left sternal border. There was no hepatosplenomegaly. Her ear, nose, and throat exams were normal. Her gag reflex was intact.

Imaging. An MRI/MRA of the brain, neck, heart, and chest showed a hypoplastic left carotid artery, an extremely small left vertebral artery, and an aberrant right subclavian artery. A transthoracic echocardiogram revealed mild aortic coarctation, ventricular dilation with left ventricular hypoplasia, septal flattening, patent foramen ovale, and a ductal aneurysm.

What Is Your Diagnosis?

A. PHACE syndrome
B. Sturge-Weber syndrome
C. Tufted angioma
D. Kaposiform hemangioendothelioma

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PHACE Syndrome

PHACE syndrome occurs in a subgroup of patients with infantile hemangiomas and associated structural anomalies of the brain, cerebral vasculature, eyes, aorta, and chest wall. The acronym PHACE (posterior fossae anomalies, hemangioma, arterial lesions, cardiac abnormalities/aortic coarctation, and abnormalities of the eye) was coined by Dr. Ilona Frieden and colleagues[1] in 1996 to describe the neurocutaneous disorders that may occur in patients with infantile hemangiomas. Prior to 1996, published cases of this syndrome used various other names, including CHVC syndrome (cutaneous hemangioma-vascular complex), oculo-cerebro-acral syndrome, and 3C syndrome (cerebellar hypoplasia, cavernous hemangioma, and coarctation of the aorta).[2]

The infantile hemangiomas in PHACE syndrome are usually large and segmental, meaning that they cover a territory rather than appearing to arise from a single focal point. Most are located on the face or scalp. In the newborn period, segmental hemangiomas may have a unique "telangiectatic" appearance or may appear as faintly erythematous patches.[3] Early recognition of these patterns is important to avoid confusing the lesions with capillary malformations or "port-wine stains."[4] Other characteristic findings include Dandy-Walker syndrome (seen in 81% of patients) and arterial malformations.

Cerebral vascular anomalies constitute the most common extracutaneous features associated with PHACE syndrome. Cerebral vasculopathy encompasses 2 interrelated processes: developmental arterial anomalies and progressive occlusive disease. In the former, anomalies of the arterial system arise from antenatal errors in vessel formation and are present at birth. A smaller proportion of patients develops progressive cerebral vasculopathy comprising arterial stenoses and occlusions that lead to arterial ischemic strokes. The developmental and progressive arterial anomalies involve large and medium-sized arteries to a much greater extent than small arteries. Almost universally, head and neck arterial anomalies in PHACE occur ipsilateral to the cutaneous hemangiomas.

PHACE syndrome has a female-to-male ratio of 9 to 1.[3] More than 300 cases are reported in the literature, exceeding the incidence of the better-characterized Sturge-Weber syndrome. About one third of patients have ophthalmologic abnormalities and cardiac anomalies, including coarctation of the aorta. In one case review, 7% of patients had subglottic hemangiomas with concern for airway obstruction.[2] Participants in the Hemangioma Investigator Group have conducted a multi-institutional (12 institutions), prospective study of hemangiomas associated with high rates of morbidity. Analysis of 108 children who had hemangiomas of the head and neck that measured 22 cm2 or greater in surface area revealed that 31% had brain and/or cerebral vascular anomalies.

Test Yourself

What other syndrome is associated with vascular malformations in a V1 (first branch of the trigeminal nerve) distribution?

A. Cobb syndrome
B. Maffucci syndrome
C. Klippel-Trenaunay syndrome
D. Sturge-Weber syndrome

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Since its original description, the diagnosis of PHACE syndrome has broadly included all patients with large facial hemangiomas plus at least 1 extracutaneous manifestation. This led to numerous reports of potentially associated features, many of uncertain significance. In an effort to better describe this condition, a group of specialists with expertise in PHACE syndrome (including pediatric dermatologists, neurologists, geneticists, neuroradiologists, cardiologists, and ophthalmologists) met in the fall of 2008 to come up with diagnostic criteria using the consensus methodology.[4]

This group stratified the diagnostic criteria into 2 categories: PHACE syndrome and possible PHACE syndrome, on the basis of major and minor criteria (Table 1).

Table 1. Categories for PHACE Diagnosis

PHACE Possible PHACE
Facial hemangioma > 5 cm in diameter
PLUS 1 major criterion or 2 minor criteria
Facial hemangioma > 5 cm in diameter
OR
Hemangioma of the neck or upper torso PLUS 1 major criterion or 2 minor criteria
OR
No hemangioma PLUS 2 major criteria

 

The criteria were primarily associated with 5 organ systems: cerebrovascular, structural brain, cardiovascular system, ocular system, and ventral or midline defects (Table 2).

Table 2. Major and Minor Diagnostic Criteria for PHACE Syndrome

Organ System Major Criteria Minor Criteria
Cerebrovascular Anomaly of major cerebral arteries

Persistent trigeminal artery
Persistent embryonic arteries other than the trigeminal artery

Intracranial hemangioma
Structural Brain Posterior fossae anomaly (such as Dandy- Walker complex) Midline anomalies
Neuronal migration disorders
Cardiovascular Aortic arch abnormalities

Aberrant origin of the subclavian artery with or without a vascular ring
Ventricular septal defect (VSD)

Right aortic arch (double aortic arch)
Ocular Posterior segment abnormalities Anterior segment abnormalities
Ventral/Midline Sternal defect Hypopituitarism

Ectopic thyroid

 

All patients at risk for PHACE syndrome should be evaluated with MRI and MRA brain imaging, imaging of the cardiovasculature including an echocardiogram, an eye examination if indicated, and a physical examination. Neuroimaging should be performed regardless of whether neurologic signs and symptoms are present, because PHACE syndrome has been reported to occur even in the absence of neurologic impairments.

The treatment of PHACE syndrome varies for each patient and depends on the severity of the disease and associated problems.

Test Yourself

A patient has a facial hemangioma that measures > 5 cm in diameter. What else would qualify the patient for a diagnosis of PHACE syndrome?

A. Intracranial hemangioma
B. Aortic aneurysm
C. Ventricular septal defect
D. Ectopic thyroid

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Which organ system does not develop symptoms associated with PHACE syndrome?

A. Renal
B. Cardiovascular
C. Endocrine
D. Ocular

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Summary

Our patient met the criteria for a diagnosis of PHACE syndrome because she had a large, segmental, facial hemangioma; a very small left internal carotid artery; an extremely small left vertebral artery; and an aberrant right subclavian artery. She was treated with oral prednisolone for approximately 7 months because of visual axis obstruction caused by the hemangioma.

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