Segmental Hemangioma in PHACES Syndrome

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AUBREY G. WAGENSELLER, AB, and ADAM A. MARTIN, MD
University of Virginia, Charlottesville

A 6-month-old girl presented with a large red-blue area on the right side of her face and extending to the scalp. The discolored area was noticed shortly after birth and had begun small, but it had grown rapidly over the previous 3 to 4 months. Her birth and development were otherwise normal. Her parents were concerned about associated hair loss, although they denied ulceration or other symptomatic complaints.

Physical examination revealed an 8.5 × 7-cm collection of spiculated, red, vascular-appearing papules and plaques covering a large percentage of the sixth cranial nerve’s distribution, but sparing the eye. No pulsation or thrill was palpable. There was minimal vellus hair growth over the affected area. The remainder of examination findings was normal.

Infantile hemangiomas are common benign tumors of infancy, with an estimated incidence of 5%. They generally present as a slight bluish discoloration in the first few days of life and grow rapidly in the following 3 to 5 months. This is followed by stabilization and spontaneous involution, beginning near the end of the first year of life. Signs of involution, such as transition from red coloration to blue-gray, may take longer to appreciate.

PHACES syndrome—an acronym for posterior fossa malformations, hemangiomas, arterial cerebrovascular anomalies, cardiovascular anomalies, eye abnormalities, sternal defects, and supraumbilical raphe—is a neurocutaneous disorder considered in the differential diagnosis of segmental infantile hemangiomas of the head and neck. Haggstrom and colleagues demonstrated the presence of at least one associated abnormality in 52 of 78 infants with segmental hemangiomas measuring 22 cm² or more.¹ A 2009 consensus statement provides guidance in further evaluation for PHACES syndrome²: Facial hemangioma of 5 cm or greater in diameter is required for diagnosis, and additional screening for cerebrovascular, structural, cardiovascular, ocular, and ventral defects is warranted in such a setting.

Segmental hemangiomas, named for their morphologic appearance, are the most common type seen in PHACES syndrome.² Cerebrovascular anomalies are the most common extracutaneous component, of which arterial anomalies are the most prevalent. This helps distinguish PHACES from other neurocutaneous syndromes associated with arteriovenous malformations, such as Sturge-Weber syndrome. The most frequent neurologic manifestations are epilepsy, developmental delay, and recurrent headaches, although most patients do not exhibit such findings during infancy. When present, these signs may indicate posterior fossa abnormalities or cerebrovascular compromise.

Aortic coarctation is the most common cardiac finding and is potentially life-threatening if blood flow is severely obstructed. Ocular defects are relatively rare, with posterior segment anomalies of the eye being the most common. The ventral developmental defects of PHACES syndrome may involve nonunion of the manubrium alone, or the defect may extend the full length of
the sternal plates into the abdomen.

Some evidence suggests that the distribution of the cutaneous hemangioma correlates with potential associated defects. Higher rates of cerebrovascular, structural, and ocular abnormalities have been reported in patients whose cutaneous hemangioma involves the sixth cranial nerve segment. Similarly, increased rates of ventral developmental defects have been described in hemangiomas involving the eighth cranial nerve segment.³

Recognizing such lesions is clinically important, since patients with a segmental hemangioma should be screened with an ophthalmologic examination, electrocardiography, echocardiography, and magnetic resonance imaging or magnetic resonance angiography of the head and neck. Follow-up is likely to involve a multidisciplinary approach including dermatology, neurology/neurosurgery, ophthalmology, and cardiology as indicated.

REFERENCES:

1. Haggstrom A, Baselga E, Chamlin S, et al. Large facial hemangiomas: what is the risk of PHACE? Presented at: 17th International Workshop on Vascular Anomalies; June 23, 2008; Boston, MA.

2. Metry D, Heyer G, Hess C, et al; PHACE Syndrome Research Conference. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 2009;124(5):1447-1456.

3. Metry DW, Haggstrom AN, Drolet BA, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006;140(9):975-986.