Association of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome
Colleen H Cotton1,2, Jusleen Ahluwalia3, Daniel M Balkin4
1Division of Dermatology, University of Arizona, Tucson.
Insights
Infants with large infantile hemangiomas (IHs) covering 25 cm2 or more, especially those affecting multiple locations, have a higher risk of PHACE syndrome. Involvement of the parotid gland or S2 segment may indicate a lower risk.
Area of Science:
- Pediatric Dermatology
- Medical Genetics
- Vascular Anomalies
Background:
- PHACE syndrome (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) is a complex condition associated with infantile hemangiomas (IHs).
- Previous studies suggest a significant incidence of PHACE syndrome in infants with facial IHs, but evidence on specific IH characteristics predicting risk is limited.
Purpose of the Study:
- To identify demographic and clinical features of large head and neck infantile hemangiomas associated with an increased risk of PHACE syndrome.
- To evaluate comorbidities in patients at risk for PHACE syndrome.
Main Methods:
- A multicenter, retrospective cohort study involving 238 patients evaluated for PHACE syndrome across 13 pediatric dermatology centers.
- Data collected included patient demographics, IH characteristics (size, location, depth), and diagnostic outcomes for PHACE syndrome.
Main Results:
- Of 238 patients, 106 (44.5%) met criteria for definite or possible PHACE syndrome.
- A surface area of IHs ≥25 cm2 (OR 2.99) and involvement of ≥3 locations (OR 17.96) were significant risk factors for PHACE syndrome.
- Involvement of the parotid gland (OR 0.39) or S2 segment (OR 0.38) was associated with a lower risk.
Conclusions:
- Infantile hemangiomas with larger surface areas and multiple anatomical involvements increase the risk of PHACE syndrome.
- Specific locations like the parotid gland or S2 segment may be associated with a decreased risk.
- Findings aid in counseling families and guiding diagnostic evaluations for infants with 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.
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