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).
FIGURE 227-4
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).
A—Arterial anomalies (Figure 227-2).
C—Cardiac anomalies and coarctation of the aorta.
E—Eye abnormalities, that is, microphthalmos (Figure 227-3), exophthalmos, colobomas, retinal vascular abnormalities, optic nerve atrophy, iris hypertrophy, or hypoplasia. A coloboma is a hole in one of the structures of the eye that can cause blindness (Figure 227-6).
FIGURE 227-6
This infant girl from Figure 227-5 has a coloboma (hole) of the cornea of the right eye. While she can detect some light she does not have useful vision in that eye. (Used with permission from AngelPHACE.com.)
Ventral anomalies, such as sternal cleft or pits and supraumbilical raphe may also be associated (Figure 227-4).
There is significant female predominance in PHACE syndrome, with 80 percent of affected children being females.
Seventy percent of cases only have one extracutaneous manifestation.
Although uncommon, incidence probably exceeds that of Sturge Weber syndrome (SWS).2
PHACE syndrome is probably still under-recognized since it rarely presents with all associated features.
Most affected infants are born at term with normal birth weight, which is in contrast to infants with non-PHACE associated infantile hemangiomas, who have a greater incidence of prematurity and low birth weight.3
