A comparison of disease severity among affected male versus female patients with PHACE syndrome

Abstract

PHACE syndrome (Online Mendelian Inheritance in Man database No. 606519) refers to the association of large, plaquelike, or segmental hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects, supraumbilical raphe, or both. The underlying pathogenesis of PHACE is unknown. A strong female predominance exists, leading some to suggest the possibility of X-linked dominant inheritance, with lethality in male patients. However, no familial cases have been reported, and disease severity among affected male patients has not been systematically studied. We compared the incidence of syndrome-associated anomalies between 17 new and 42 published reports of male patients with PHACE versus 213 published reports of female patients with PHACE. A statistically significant difference was found only for structural brain anomalies, which were somewhat more common in male patients. This was a retrospective study. Information was limited on some new and many previously reported cases. Overall, our results show no convincing trend toward greater or lesser disease severity among affected male patients with PHACE.