Hemangiomas on the face are considered large when they are more than 5 cm (about 2 inches) in size. When hemangiomas are large or follow certain patterns on the face, there is a chance they can be associated with problems with the brain or heart such as those seen in PHACE syndrome (see below). Large hemangiomas of the lower half of the face (in a “beard” location) may be associated with other hemangiomas in the airway that can sometimes affect breathing. It is recommended that your child see his/her doctor as soon as possible for large hemangiomas on the face, or for hemangiomas located around the eye, on the nose, or lips, even if smaller in size, since treatment may be needed.
PHACE syndrome refers to the uncommon association of large hemangiomas of the face and birth abnormalities of the brain or brain blood vessels, heart or heart blood vessels or, rarely, eyes. Sometimes there can also be changes of the skin over the middle part of the chest (sternum) or stomach above the belly button. These abnormalities are there at birth. The diagnosis of PHACE is made by physical examination, imaging (special pictures) or the head, neck and heart, and an eye examination. If you are concerned that your child may have PHACE syndrome, it is important that your child is seen by a physician familiar with the diagnosis, evaluation and treatment of hemangiomas and PHACE syndrome.
The cause of PHACE syndrome is not known. It affects girls much more often than boys. It does not appear to run in families. PHACE is an acronym that stands for the following:
P = Posterior fossa abnormalities: abnormal development of the back of the brain.
H = Hemangiomas: large and often patterned on the face.
A = Arterial: abnormal blood vessels of the brain and/or neck.
C = Cardiac: abnormalities of the heart and/or aortic arch (blood vessels coming from the heart)
E = Eye abnormalities.
(S) = Sternal defects and/or supraumbilical raphe: skin changes over the chest or stomach.
Other than the hemangioma, the most common problems seen in PHACE are changes of the blood vessels of the brain, neck or heart. Most children with PHACE only have a couple of the problems, it is very rare for an individual to have every possible problem. While many children with PHACE are otherwise normal, some may be at risk for neurological problems such as migraine-like headaches, seizures and developmental delay including speech delay. PHACE has been reported in association with stroke but this is very rare.
PHACE was only recently described in 1996. Since then, there have been significant advances in the understanding and recognition of PHACE. The Hemangioma Investigator Group (HIG) has been very involved in PHACE research and currently has several active studies. It is hopeful that these research efforts will lead to the cause of and prevention of PHACE and improved treatments for those children affected.
Figure 1 in: Haggstrom AN et al. Pediatrics 2006;117:698-703.
Used with permission from the American Academy of Pediatrics.
Large hemangiomas on the lower part of the face
Babies with large hemangiomas on the lower part of the face, also called the “beard distribution” are associated with hemangiomas in the airway that may affect breathing and require treatment.
This infant girl had an extensive hemangioma of the “beard area”, with associated hemangiomas in the airway. She was treated with oral steroids, with marked improvement in the skin hemangiomas and resolution of the airway hemangiomas.
Related HIG Research:
- Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr. 2016 Nov; 178:24-33.
- Haggstrom AN, Skillman S, Garzon MC, Drolet BA, Holland K, Matt B, McCuaig C, Metry DW, Morel K, Powell J, Frieden IJ Clinical spectrum and risk of PHACE syndrome in cutaneous and airway hemangiomas. Arch Otolaryngol Head Neck Surg. 2011 Jul; 137(7):680-7.
- Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, Maguiness S, Mancini AJ, McCuaig C, Metry DW, Morel K, Powell J, Perkins SM, Siegel D, Drolet BA. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics. 2010 Aug;126(2):e418-26
- Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ. A prospective study of the PHACE association in infantile hemangiomas: demographic features, clinical findings and complications. Am J Med Genet 2006;140(9):975-986.
- Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B. Consensus statement of diagnostic criteria for PHACE syndrome. Pediatrics. 2009;124:1447-56.
- Metry D, Frieden IJ, Hess C, Siegel D, Maheshwari M, Baselga E, Chamlin S, Garzon M, Mancini AJ, Powell J, Drolet BA. Propranolol use in PHACE syndrome with cervical and intracranial aterial anomalies: collective experience in 32 infants. Pediatr Dermatol 2013;30(1):71-89.