Colleen H Cotton1,2, Jusleen Ahluwalia3, Daniel M Balkin4, Ilona J Frieden5, Anita N Haggstrom6, Leslie A Castelo-Soccio7, Carmen Liy-Wong8, Elena Pope8, Jack E Steiner9, Dawn H Siegel9, Esteban Fernandez-Faith10, Kimberly D Morel11,12, Christine T Lauren11,12, Maria C Garzon11,12, Anthony J Mancini13, Sarah L Chamlin13, Megha M Tollefson14,15, Marilyn G Liang16, Sophia Delano16, Sharon A Glick17, Marcia Hogeling18, Victoria R Barrio19. 1. Division of Dermatology, University of Arizona, Tucson. 2. now with Departments of Dermatology and Pediatrics, Medical University of South Carolina, Charleston. 3. Department of Dermatology, University of California, San Diego. 4. Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 5. Department of Dermatology, School of Medicine, University of California, San Francisco. 6. Department of Dermatology, Indiana University School of Medicine, Indianapolis. 7. Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 8. Section of Pediatric Dermatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. 9. Department of Dermatology, Medical College of Wisconsin, Milwaukee. 10. Division of Dermatology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus. 11. Department of Dermatology, Columbia University Irving Medical Center and New York Presbyterian Hospital, New York. 12. Department of Pediatrics, Columbia University Irving Medical Center and New York Presbyterian Hospital, New York. 13. Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 14. Department of Dermatology, Mayo Clinic, Rochester, Minnesota. 15. Department of Pediatrics, Mayo Clinic, Rochester, Minnesota. 16. Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 17. Departments of Dermatology and Pediatrics, Kings County Medical Center, Brooklyn, New York. 18. Division of Dermatology, Department of Medicine, David Geffen School of Medicine at UCLA, University of California, Los Angeles. 19. Department of Dermatology, University of California, San Diego, Rady Children's Hospital, San Diego.
Abstract
Importance: A 2010 prospective study of 108 infants estimated the incidence of PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome to be 31% in children with facial infantile hemangiomas (IHs) of at least 22 cm2. There is little evidence regarding the associations among IH characteristics, demographic characteristics, and risk of PHACE syndrome. Objectives: To evaluate demographic characteristics and comorbidities in a large cohort of patients at risk for PHACE syndrome and assess the clinical features of large head and neck IH that may be associated with a greater risk of a diagnosis of PHACE syndrome. Design, Setting, and Participants: This multicenter, retrospective cohort study assessed all patients with a facial, head, and/or neck IH who were evaluated for PHACE syndrome from August 1, 2009, to December 31, 2014, at 13 pediatric dermatology referral centers across North America. Data analysis was performed from June 15, 2017, to February 29, 2020. Main Outcomes and Measures: The main outcome was presence or absence of PHACE syndrome. Data included age at diagnosis, sex, patterns of IH presentation (including size, segment location, and depth), diagnostic procedures and results, and type and number of associated anomalies. Results: A total of 238 patients (mean [SD] age, 2.96 [4.71] months; 184 [77.3%] female) were included in the analysis; 106 (44.5%) met the criteria for definite (n = 98) or possible (n = 8) PHACE syndrome. A stepwise linear regression model found that a surface area of 25 cm2 or greater (odds ratio [OR] 2.99; 95% CI, 1.49-6.02) and involvement of 3 or more locations (OR, 17.96; 95% CI, 6.10-52.85) to be statistically significant risk factors for PHACE syndrome. Involvement of the parotid gland (OR, 0.39; 95% CI, 0.18-0.85) and segment S2 (OR, 0.38; 95% CI, 0.16-0.91) was associated with a lower risk. Race and ethnicity may also be associated with PHACE syndrome risk, although more studies are needed. Conclusions and Relevance: This cohort study further described factors associated with both a higher and lower risk of PHACE syndrome. The presence of multiple anatomical sites and large surface area were associated with greater risk, whereas S2 or parotid IHs were associated with lower, but still potential, risk. These findings can help in counseling families and decision-making regarding evaluation of infants with large head and neck IHs.
Importance: A 2010 prospective study of 108 infants estimated the incidence of PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome to be 31% in children with facial infantile hemangiomas (IHs) of at least 22 cm2. There is little evidence regarding the associations among IH characteristics, demographic characteristics, and risk of PHACE syndrome. Objectives: To evaluate demographic characteristics and comorbidities in a large cohort of patients at risk for PHACE syndrome and assess the clinical features of large head and neck IH that may be associated with a greater risk of a diagnosis of PHACE syndrome. Design, Setting, and Participants: This multicenter, retrospective cohort study assessed all patients with a facial, head, and/or neck IH who were evaluated for PHACE syndrome from August 1, 2009, to December 31, 2014, at 13 pediatric dermatology referral centers across North America. Data analysis was performed from June 15, 2017, to February 29, 2020. Main Outcomes and Measures: The main outcome was presence or absence of PHACE syndrome. Data included age at diagnosis, sex, patterns of IH presentation (including size, segment location, and depth), diagnostic procedures and results, and type and number of associated anomalies. Results: A total of 238 patients (mean [SD] age, 2.96 [4.71] months; 184 [77.3%] female) were included in the analysis; 106 (44.5%) met the criteria for definite (n = 98) or possible (n = 8) PHACE syndrome. A stepwise linear regression model found that a surface area of 25 cm2 or greater (odds ratio [OR] 2.99; 95% CI, 1.49-6.02) and involvement of 3 or more locations (OR, 17.96; 95% CI, 6.10-52.85) to be statistically significant risk factors for PHACE syndrome. Involvement of the parotid gland (OR, 0.39; 95% CI, 0.18-0.85) and segment S2 (OR, 0.38; 95% CI, 0.16-0.91) was associated with a lower risk. Race and ethnicity may also be associated with PHACE syndrome risk, although more studies are needed. Conclusions and Relevance: This cohort study further described factors associated with both a higher and lower risk of PHACE syndrome. The presence of multiple anatomical sites and large surface area were associated with greater risk, whereas S2 or parotid IHs were associated with lower, but still potential, risk. These findings can help in counseling families and decision-making regarding evaluation of infants with large head and neck IHs.
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: Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel Journal: Am J Med Genet A Date: 2017-11-24 Impact factor: 2.802
Authors: Anita N Haggstrom; Edward J Lammer; Richard A Schneider; Ralph Marcucio; Ilona J Frieden Journal: Pediatrics Date: 2006-03 Impact factor: 7.124
Authors: Cheryl L Brosig; Dawn H Siegel; Anita N Haggstrom; Ilona J Frieden; Beth A Drolet Journal: Pediatr Dermatol Date: 2016-06-13 Impact factor: 1.588
Authors: Gerilyn M Olsen; Leanna M Hansen; Nicole S Stefanko; Erin Mathes; Katherine B Puttgen; Megha M Tollefson; Christine Lauren; Anthony J Mancini; Catherine C McCuaig; Ilona J Frieden; Denise Adams; Eulalia Baselga; Sarah Chamlin; Deepti Gupta; Peter Frommelt; Maria C Garzon; Kimberly Horii; Justyna Klajn; Mohit Maheshwari; Brandon Newell; Henry L Nguyen; Amy Nopper; Julie Powell; Dawn H Siegel; Beth A Drolet Journal: JAMA Dermatol Date: 2020-02-01 Impact factor: 10.282