title: A comparison of disease severity among affected male versus female patients with PHACE syndrome.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  A statistically significant difference was found only for structural brain anomalies, which were somewhat more common in male patients.
  
  
  CONCLUSIONS
  This was a retrospective study. Information was limited on some new and many previously reported cases.
  
  
  CONCLUSIONS
  Overall, our results show no convincing trend toward greater or lesser disease severity among affected male patients with PHACE.
authors.affiliation: Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA. dmetry@bcm.tmc.edu
authors.forename: Denise W
authors.initials: DW
authors.lastname: Metry
authors.forename: Dawn H
authors.initials: DH
authors.lastname: Siegel
authors.forename: Maria R
authors.initials: MR
authors.lastname: Cordisco
authors.forename: Elena
authors.initials: E
authors.lastname: Pope
authors.forename: Julie
authors.initials: J
authors.lastname: Prendiville
authors.forename: Beth A
authors.initials: BA
authors.lastname: Drolet
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Horii
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Stein
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D001921:Brain / Q000002:abnormalities; D002658:Developmental Disabilities / Q000453:epidemiology; D005124:Eye Abnormalities / Q000453:epidemiology; D005153:Facial Neoplasms / Q000150:complications*; D005260:Female; D006391:Hemangioma / Q000150:complications*; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D012720:Severity of Illness Index; D017678:Sex Distribution; D013577:Syndrome; D054079:Vascular Malformations / Q000453:epidemiology