RT Book, Section
A1 Torres-Zegarra, Carla
A1 Tamburro, Joan
A1 Vidimos, Allison
A2 Usatine, Richard P.
A2 Sabella, Camille
A2 Smith, Mindy Ann
A2 Mayeaux, E.J.
A2 Chumley, Heidi S.
A2 Appachi, Elumalai
SR Print(0)
ID 1114880919
T1 Phace Syndrome
T2 The Color Atlas of Pediatrics
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-176701-9
LK accesspediatrics.mhmedical.com/content.aspx?aid=1114880919
RD 2024/04/23
AB A  2.5-year-old  girl  who  was  diagnosed  with  PHACE  syndrome  at  5  months  of  age  is  brought  to  her  dermatologist  for  a  routine  follow-up  visit.  She  had  presented  with  multiple  hemangiomas  on  her  face,  chest,  and  right  arm,  microphthalmia,  corneal  hazing,  and  a  sternal  pit.  The  dermatologist  recognized  the  associated  findings  as  concerning  for  PHACE  syndrome.  Work-up  at  that  time  revealed  moderate  to  severe  dysgenesis  of  the  anterior  segment  of  her  right  eye  and  elevated  intraocular  pressure.  An  MRI/MRA  of  her  brain  showed  hypoplasia  of  the  right  cerebellum  and  multiple  arterial  anomalies  (Figures  227-1  and  227-2).  The  facial  hemangiomas  were  treated  locally  with  sequential  laser  treatments  and  eventually  required  removal  of  a  hypertrophic  scar  on  her  upper  lip.  She  is  doing  well  clinically.  She  continues  to  have  residual  hemangiomas  on  her  face  and  arm,  microphthalmia,  and  a  sternal  pit  (Figures  227-3  and  227-4).