Infantile hemangiomas at multiple sites may increase PHACE syndrome risk

Facial infantile hemangiomas at multiple sites may put infants at risk for posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects and eye anomalies, known as PHACE syndrome, according to a study.

Colleen H. Cotton, MD, of the division of dermatology at the University of Arizona, Tucson, and the departments of dermatology and pediatrics at the Medical University of South Carolina, Charleston, and colleagues highlighted a 2010 prospective study involving 108 infants. Findings from that study showed that the estimated incidence of PHACE syndrome was 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,” they wrote.

In the current multicenter, retrospective cohort study, they aimed to assess demographic characteristics and comorbidities in a cohort of 238 patients with a facial, head and/or neck IH who were evaluated for PHACE syndrome.

Eligible participants were assessed between Aug. 1, 2009, and Dec. 31, 2014, at 13 pediatric dermatology referral centers in North America.

The presence or absence of PHACE syndrome served as the primary outcome measure. Demographic factors that underwent analysis included age at diagnosis and sex. Clinical factors included the size, segment location and depth of IH presentation, along with diagnostic procedures and results as well as type and number of associated anomalies.

Mean age of the patients was 2.96 months. The cohort was 77.3% female.

Results showed that 44.5% of patients met the criteria for definite or possible PHACE syndrome; there were 98 children in the definite PHACE syndrome group and eight children in the possible group.

A linear regression analysis showed that a surface area of 25 cm² or greater significantly increased the risk for PHACE syndrome (OR = 2.99; 95% CI, 1.49-6.02). When three or more locations were involved, the risk was also statistically significantly elevated (OR = 17.96; 95% CI, 6.10-52.85).

Analysis of demographic data showed that race other than white (OR = 3.25; 95% CI, 1.23-8.60) and Hispanic ethnicity (OR = 3.00; 95% CI, 1.15-7.83) may also be associated with elevated PHACE syndrome risk. However, the researchers noted that more data are needed to accurately describe these associations.

“These findings can help in counseling families and decision-making regarding evaluation of infants with large head and neck IHs,” the researchers wrote.