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:
- Surlis T, De Sa Reilly H, Sadlier M, Nelson J. Infantile haemangiomas BMJ 2022; 378 :e068734 doi:10.1136/bmj-2021-068734
- Krowchuk DP, Frieden IJ, Mancini AJ, Darrow DH, Blei F, Greene AK, Annam A, Baker CN, Frommelt PC, Hodak A, Pate BM, Pelletier JL, Sandrock D, Weinberg ST, Whelan MA; SUBCOMMITTEE ON THE MANAGEMENT OF INFANTILE HEMANGIOMAS. Clinical Practice Guideline for the Management of Infantile Hemangiomas. Pediatrics. 2019 Jan;143(1):e20183475.
- Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. An Bras Dermatol. 2018 Jun;93(3):405-411.