A 2.5-year-old girl who was diagnosed with PHACE syndrome at 5 months of age is brought to her dermatologist for a routine follow-up visit. She had presented with multiple hemangiomas on her face, chest, and right arm, microphthalmia, corneal hazing, and a sternal pit. The dermatologist recognized the associated findings as concerning for PHACE syndrome. Work-up at that time revealed moderate to severe dysgenesis of the anterior segment of her right eye and elevated intraocular pressure. An MRI/MRA of her brain showed hypoplasia of the right cerebellum and multiple arterial anomalies (Figures 227-1 and 227-2). The facial hemangiomas were treated locally with sequential laser treatments and eventually required removal of a hypertrophic scar on her upper lip. She is doing well clinically. She continues to have residual hemangiomas on her face and arm, microphthalmia, and a sternal pit (Figures 227-3 and 227-4).
Hypoplasia of the right cerebellum and superior displacement of the hypoplastic right hemisphere due to an arachnoid cyst on MRI brain in a patient with PHACE syndrome. (Used with permission from Carla Torres-Zegarra, MD.)
Left internal carotid hypoplasia (blue arrow) and duplicated right vertebral artery (red arrow) with marked hypoplasia on MRA of the brain in a patient with PHACE syndrome. (Used with permission from Carla Torres-Zegarra, MD.)
A. Multiple facial hemangiomas and microphthalmia of the right eye in a 2.5-year-old girl with PHACE syndrome. B. A hypertrophic scar is evident at the site of laser therapy for her lip hemangioma. (Used with permission from Carla Torres-Zegarra, MD.)
Residual hemangioma on the arm (A) and a sternal pit (B), representing evidence of a ventral developmental defect, of the 2.5-year-old girl in Figure 227-3. (Used with permission from Carla Torres-Zegarra, MD.)
Hemangiomas are the most common benign tumor in infancy. Associations between infantile hemangiomas with anomalies in the brain, cerebral vasculature, cardiovascular system, eyes, and chest wall have led to the designation of PHACE syndrome, which is defined by the presence of a large, segmental hemangioma, more commonly found on the face or head, associated with one or more congenital malformations, most commonly structural or cerebrovascular anomalies of the brain and cardiovascular system. In 1996, Frieden proposed an acronym for this syndrome as shown in the following:1
P—Posterior fossa malformations, that is, Dandy Walker malformation (Figure 227-1).
H—Hemangiomas, usually large, segmental, “plaque-like” lesions (Figure 227-5)....