PHACE Syndrome: Dramatic Response to Propranolol

A 2-month-old pre-term (gestational age 30 weeks) singleton female baby presented with a large, soft, and lobulated dusky erythematous plaque on the right lateral aspect of the face since a week of birth, suggestive of a segmental infantile hemangioma [Figure 1a]. Similar, smaller plaques of size 1–1.5 cm were seen as satellite lesions near the nasolabial fold. This was associated with a gross right orbital swelling on the same side associated with proptosis of the globe [Figure 1b]. A clinical suspicion of PHACE(S) syndrome (posterior fossa malformations, hemangioma, arterial anomalies, cardiac abnormalities/coarctation of the aorta, eye anomalies ± supraumbilical raphe/sternal cleft) was considered. There was no history of cardiac or neurological symptoms and no sternal defect on physical examination. A screening magnetic resonance imaging with angiography of the head and neck showed right cerebellar hypoplasia [Figure 1c] and right orbital T1/T2 hyper-intense homogeneous soft tissue mass involving extraconal space, suggestive of orbital hemangioma [Figure 1d], fulfilling the definite diagnostic criteria (hemangioma >5 cm of the head plus one major criterion in the form of posterior fossa anomalies).^[1] Coarctation of the aorta was also detected, whereas the rest of the vasculature architecture of brain was normal on angiography. The baby was started on oral propranolol 0.5 mg/kg/day titrated up to 2 mg/kg/day under cardiac monitoring and standard precautions in the form of administration of drug post feed, with complete resolution over a period of 6 months. Propranolol was subsequently tapered to 1 mg/kg with a sustained response at 8 months [Figure 2a and b].

Figure 1: (a) Lateral view of the right side of the face with well-defined, dusky erythematous, soft lobulated plaque suggestive of infantile hemangioma (>5 cm size). (b) Anterior view showing smaller plaques on the cheek and right orbital proptosis. (c) Right cerebellar hypoplasia seen in the coronal section on MR angiography (white arrow). (d) Right orbital T1/T2 hyper-intense homogeneous soft tissue mass involving extraconal space, suggestive of orbital hemangioma (red arrow)

Figure 2: (a and b) Complete resolution of hemangioma with regression of orbital proptosis at 8 months of follow-up

The use of beta blockers in PHACE syndrome was earlier considered to be contraindicated when vascular anomalies were present, but recent studies have demonstrated safety and good efficacy.^[2,3] We demonstrate a case of PHACE syndrome with coarctation of aorta, with safe use of propranolol and dramatic response.

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