PHACE syndrome

Last edited 07/2022 and last reviewed 08/2022

PHACE syndrome (OMIM 606519)

  • posterior fossa and other structural brain malformations; large haemangiomas of the face, neck, and/or scalp; anomalies of cerebral or cervical
    arteries; cardiac anomalies/coarctation of the aorta; eye abnormalities and sternal clefting or supraumbilical raphe
  • acronym "PHACES" is sometimes used instead to include potential ventral midline defects, specifically sternal cleft and/or supraumbilical raphe (2)
  • crebrovascular anomalies, present in more than 90% of patients with PHACE syndrome, are the most common extracutaneous feature of the syndrome, followed by cardiac anomalies (67%) and structural brain anomalies (52%) (2)
  • risk of PHACE syndrome in an infant presenting with a large segmental infantile haemangioma (IH) of the head or neck is approximately 30% (2)

Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood (3).

PHACE syndrome is observed in 2% to 3% of IH cases (3)

Approximately 90% of the hemangiomas in PHACE syndrome are located on the cephalic segment (3)

  • the face is the most commonly affected site, but lesions can develop on the scalp and postauricular and cervical regions
  • large and segmental IHs on the occipital, upper thoracic, trunk, and proximal upper limb regions have also been described in PHACE syndrome

Reference:

Related pages:

infantile haemangiomas