BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.
BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION:Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.
Authors: Anita N Haggstrom; Maria C Garzon; Eulalia Baselga; Sarah L Chamlin; Ilona J Frieden; Kristen Holland; Sheilagh Maguiness; Anthony J Mancini; Catherine McCuaig; Denise W Metry; Kimberly Morel; Julie Powell; Susan M Perkins; Dawn Siegel; Beth A Drolet Journal: Pediatrics Date: 2010-07-19 Impact factor: 7.124
Authors: Ahmet Songur; Yucel Gonul; Oguz Aslan Ozen; Hudaverdi Kucuker; Ibrahim Uzun; Orhan Bas; Muhsin Toktas Journal: Surg Radiol Anat Date: 2008-02-06 Impact factor: 1.246
Authors: Denise W Metry; Maria C Garzon; Beth A Drolet; Peter Frommelt; Anita Haggstrom; Judith Hall; Christopher P Hess; Geoffrey L Heyer; Dawn Siegel; Eulalia Baselga; William Katowitz; Moise L Levy; Anthony Mancini; Mandi L Maronn; Thuy Phung; Elena Pope; Grace Sun; Ilona J Frieden Journal: Pediatr Dermatol Date: 2009 Jul-Aug Impact factor: 1.588
Authors: D W Metry; A N Haggstrom; B A Drolet; E Baselga; S Chamlin; M Garzon; K Horii; A Lucky; A J Mancini; B Newell; A Nopper; G Heyer; I J Frieden Journal: Am J Med Genet A Date: 2006-05-01 Impact factor: 2.802
Authors: Geoffrey L Heyer; Michael M Dowling; Daniel J Licht; Stacey Kiat-Hong Tay; Kimberly Morel; Maria C Garzon; Philip Meyers Journal: Stroke Date: 2008-01-03 Impact factor: 7.914