A healthy 5-week-old girl presents for evaluation of rapidly growing, flat-topped red papules on the left side of her face (Figure 1).
Diagnosis: Large segmental hemangioma with risk of PHACE
PHACE syndrome consists of posterior fossa brain malformation, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities.1 It is primarily a cutaneous condition with many congenital anomalies. The term PHACE(s) is sometimes used when there are additional ventral developmental defects such as sternal cleft and/or subraumbilical raphe, neither of which was present in this patient.
A complete and thorough physical exam should be performed at initial patient presentation to evaluate for developmental anomalies, eye anomalies, and midline defects. Initial workup also includes a head and neck magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and echocardiogram. If cardiac abnormalities are identified, a cardiac MRI/MRA is recommended to characterize the arch and brachiocephalic anatomy.1,2
A large segmental facial infantile hemangioma (IH) should raise concern for the possibility of PHACE syndrome. Infantile hemangiomas must be distinguished from port wine stains: IH are faintly present or absent at birth, and then grow quickly in the first 2 months of life; in contrast, port wine stains typically are readily apparent at birth and do not grow quickly. Infantile hemangiomas may begin as more of a purplish bruise-like lesion or telangiectasias with surrounding pallor and then develop their characteristic cherry-red color in the first weeks of life. Port wine stains may begin as a pink-red patch and develop a deeper red hue with time.2
The segmental IH of PHACE comprises 1 or more of 4 segments: frontotemporal, maxillary, mandibular, and/or frontonasal. Patients with PHACE may have subglottic airway hemangiomas and are at risk for airway obstruction.3 For this reason, MRA of the neck should be performed in addition to brain imaging.
1. Garzon MC, Epstein LG, Heyer GL, et al. PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 2016;178:24.e2-33.e2.
2. Darrow DH, Greene AK, Mancini AJ, Nopper AJ; Section on Dermatology; Section on Otolaryngology-Head and Neck Surgery; Section on Plastic Surgery. Diagnosis and management of infantile hemangioma. Pediatrics. 2015;136(4):e1060-e1104.
3. Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R. Frieden IJ. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics. 2006;117(3):698-703.
4. Haggstrom A, Garzon MC, Baselga E, et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics. 2010;126(2):e418-e426.
5. Bayer ML, Frommelt PC, Bleji F, et al.. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 2013;112(12):1948-1952.
6. Drolet BA, Frommelt PC, Chamlin SL, et al. Initiation and use of propranolol for infantile hemangioma: report of a consensus conference. Pediatrics. 2013;131(1):128-140.
7. Siegel DH, Tefft KA, Kelly T, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke. 2012;43(6):1672-1674.