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). 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].
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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1. Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, et al. PHACE syndrome:Consensus-derived diagnosis and care recommendations. J Pediatr 2016;178:24–33.e2.
2. Olsen GM, Hansen LM, Stefanko NS, Mathes E, Puttgen KB, Tollefson MM, et al. Evaluating the safety of oral propranolol therapy in patients with PHACE syndrome. JAMA Dermatol 2020;156:186–90.
3. Disse SC, Zemlin M, Mueller C, Meyer S. PHACE Syndrome-before and after propranolol therapy. J Pediatr 2018;193:275.