About PHACE

A 4 week old infant presented with a large segmental infantile hemangioma affecting the bilateral cheeks, extending down the anterior and left lateral neck (Figure). Given its distribution, she was investigated for PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac abnormalities or aortic coarctation, and eye abnormalities) syndrome.1Rodriguez Bandera A. Sebaratnam D. Wargon O. Wong L. Infantile haemangioma part I: epidemiology, pathogenesis, clinical presentation and assessment.J Am Acad Dermatol. 2021; 85: 1379-1392Abstract Full Text Full Text PDF PubMed Google Scholar, 2Metry D. Dowd C. Barkovich J. Frieden I. The many faces of PHACE syndrome.J Pediatr. 2001; 139: 117-123Abstract Full Text Full Text PDF PubMed Scopus (271) Google Scholar, 3Wan J. Steiner J. Baselga E. Blei F. Cordisco M. Garzon M. et al.Prenatal risk factors for PHACE syndrome: a study using the PHACE syndrome international clinical registry and genetic repository.J Pediatr. 2017; 190: 275-279Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar, 4Garzon M. Epstein L. Heyer G. Frommelt P. Orbach D. Baylis A. et al.PHACE syndrome: consensus-derived diagnosis and care recommendations.J Pediatr. 2016; 178: 24-33.e2Abstract Full Text Full Text PDF PubMed Scopus (154) Google Scholar Ophthalmology and cardiology review, including electrocardiography and transthoracic echocardiography, was unremarkable. An MRI-magnetic resonance angiography demonstrated hemangioma affecting the left parotid, deep, and superficial spaces in the neck bilaterally, thyroid isthmus, chest wall, and superior mediastinum. An aberrant right subclavian artery arising from the left aortic arch with a retro-esophageal course and compression at the midpoint was also noted. The patient received oral atenolol 1 mg/kg/day and diminution of the cutaneous infantile hemangioma was noted. However, her mother reported ongoing nocturnal stridor (Video; available at www.jpeds.com). Laryngoscopy and bronchoscopy demonstrated a subglottic hemangioma causing grade III stenosis. Given the higher volume of evidence for propranolol in the treatment of airway infantile hemangioma, she was transitioned to propranolol at a dose of 2 mg/kg/day.5Ábarzúa-Araya A. Navarrete-Dechent C. Heusser F. Retamal J. Zegpi-Trueba M. Atenolol versus propranolol for the treatment of infantile hemangiomas: a randomized controlled study.J Am Acad Dermatol. 2014; 70: 1045-1049Abstract Full Text Full Text PDF PubMed Scopus (97) Google Scholar This led to resolution of her stridor within a week and regression of the stenosis on follow up laryngoscopy and bronchoscopy at the age of 14 months. Infantile hemangioma is common, affecting up to one in 25 infants.1Rodriguez Bandera A. Sebaratnam D. Wargon O. Wong L. Infantile haemangioma part I: epidemiology, pathogenesis, clinical presentation and assessment.J Am Acad Dermatol. 2021; 85: 1379-1392Abstract Full Text Full Text PDF PubMed Google Scholar Most are innocuous but some can be associated with extracutaneous manifestations. Subglottic airway hemangiomas are a common location for extracutaneous hemangiomas (22% of cases) and are typically seen with cutaneous hemangioma involving the mandibular region and anterior neck; ‘the beard area’.1Rodriguez Bandera A. Sebaratnam D. Wargon O. Wong L. Infantile haemangioma part I: epidemiology, pathogenesis, clinical presentation and assessment.J Am Acad Dermatol. 2021; 85: 1379-1392Abstract Full Text Full Text PDF PubMed Google Scholar,2Metry D. Dowd C. Barkovich J. Frieden I. The many faces of PHACE syndrome.J Pediatr. 2001; 139: 117-123Abstract Full Text Full Text PDF PubMed Scopus (271) Google Scholar,6Disse S. Zemlin M. PHACE syndrome – before and after propranolol therapy.J Pediatr. 2018; 193: 275Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar Respiratory compromise or stridor, as observed in this case, should prompt the clinician to consider airway hemangioma and referral to otolaryngology as these may be life-threatening and require intubation or tracheostomy.6Disse S. Zemlin M. PHACE syndrome – before and after propranolol therapy.J Pediatr. 2018; 193: 275Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar Guidelines outlining which infantile hemangioma requires further investigation have been recently published based on expert consensus.4Garzon M. Epstein L. Heyer G. Frommelt P. Orbach D. Baylis A. et al.PHACE syndrome: consensus-derived diagnosis and care recommendations.J Pediatr. 2016; 178: 24-33.e2Abstract Full Text Full Text PDF PubMed Scopus (154) Google Scholar,7Sebaratnam D. Rodriguez Bandera A. Wong L. Wargon O. Infantile hemangioma part II: management.J Am Acad Dermatol. 2021; 85: 1395-1404Abstract Full Text Full Text PDF PubMed Google Scholar,8Der Sarkissian S. Wargon O. Sebaratnam D. International heterogeneity in admission criteria and monitoring for the initiation of propranolol in infantile hemangioma.JAAD Int. 2020; 1: 111-113Abstract Full Text Full Text PDF PubMed Google Scholar Atenolol is generally a favored first line treatment as a selective beta-1 antagonist, in line with evolving evidence regarding a more favorable side effect profile compared with the nonselective propranolol. A standard dose based on randomized controlled trial data is 1 mg/kg/day. However, there is a greater volume of evidence for propranolol in the treatment of airway hemangioma.4Garzon M. Epstein L. Heyer G. Frommelt P. Orbach D. Baylis A. et al.PHACE syndrome: consensus-derived diagnosis and care recommendations.J Pediatr. 2016; 178: 24-33.e2Abstract Full Text Full Text PDF PubMed Scopus (154) Google Scholar, 5Ábarzúa-Araya A. Navarrete-Dechent C. Heusser F. Retamal J. Zegpi-Trueba M. Atenolol versus propranolol for the treatment of infantile hemangiomas: a randomized controlled study.J Am Acad Dermatol. 2014; 70: 1045-1049Abstract Full Text Full Text PDF PubMed Scopus (97) Google Scholar, 6Disse S. Zemlin M. PHACE syndrome – before and after propranolol therapy.J Pediatr. 2018; 193: 275Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar, 7Sebaratnam D. Rodriguez Bandera A. Wong L. Wargon O. Infantile hemangioma part II: management.J Am Acad Dermatol. 2021; 85: 1395-1404Abstract Full Text Full Text PDF PubMed Google Scholar eyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiI1MjU2MDA0Mzg3MGU0MDYzOGJmNzQ0NzFhYjhhNWQwOSIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNjkzNTAwMjI5fQ.PKjWTvTmSg3w1QBDs_KHGqpa6-kQoWIUjJj3cxLRLzVFBPNPAUiah8QX6bl7DbJhBKAueT74lOUhAfiuVN928gd6iqKWP0euEBr6BXpEqt3MuwGWTkCSBrlJs_dQZ29iC1UQleTvWRjTAtxPy-7TYNQAlWwJibfgRd6_5frU4bszHXlR7wWP4E6HVUPxz9G53vurwcdaveeUpjYKaKYJi3oUk2r1IIgCcEJHuuqgJVJ23tPJgKteO26MeHcPcdhjjmHw7PhyR72mT1lqAlDCpoSwRE9SWM2e0wYnkE4dyoWc9gGMXad83dpVxggNOhLQgq1n2odxhy99PZokVVXlJA Download .mp4 (1.98 MB) Help with .mp4 files Video