O07 Faceless PHACES

Abstract

Abstract PHACES syndrome (posterior fossa – haemangioma – arterial – cardiac – eye – sternal) is a multisystem disorder which often presents first with a facial, segmental infantile haemangioma (IH). Prompt recognition of this subtype of IH is key to enable early detection of neurological/ophthalmological/cardiac anomalies. As per international consensus guidelines, the presence of a facial segmental haemangioma > 5 cm triggers screening for associated extracutaneous anomalies. We present three infants with absent/minimal facial haemangioma, but who fulfilled extracutaneous criteria of PHACES syndrome. Patient 1 was a 3-week-old female who presented with a 1–2-cm linear superficial left post-auricular IH. PHACES screening revealed an atrial septal defect, intracranial haemangiomas and hypoplastic cerebrovasculature. Patient 2, a 9-month-old girl, was admitted to intensive care following acute respiratory deterioration. Examination revealed a segmental IH of the occipital scalp. PHACES screening revealed a vascular ring, right aortic arch, aberrant subclavian artery, subglottic and mediastinal IH and narrowing/tortuosity of the left internal carotid artery. Patient 3, a 4-month-old male, was referred for evaluation of three superficial IH, all < 0.5 cm, one on the right post-auricular skin and two on the right forehead. He suffered acute collapse at 2 weeks of life leading to a diagnosis of obstructed total anomalous pulmonary–venous connection requiring emergency surgical correction. PHACES screening revealed bilateral dysplastic/torturous internal carotid arteries. We present three cases of PHACES syndrome without the classic facial segmental IH. Clinicians should be aware of the spectrum of IH observed in PHACES syndrome to enable prompt screening of those presenting with atypical scalp and post-auricular lesions.