By Gary M. White, MD
PHACE syndrome classically is the association of a large (e.g., > 5 cm) facial hemangioma with a posterior fossa malformation and/or various other abnormalities.
- P Posterior fossa malformations
- H Hemangiomas, typically facial, large, segmental and prone to ulceration
- A Arterial Abnormalities
- C Coarctation of the Aorta and Cardiac Defects
- E Eye abnormalities.
- The presence of a plaque-like facial hemangioma, plus either
- 1 major criterion (posterior fossa anomalies, dysplasia of the large cerebral arteries, aortic arch anomaly, eye posterior segment anomaly, or sternal defect) or
- 2 minor criteria (callosal agenesis, pituitary malformation, ventricular septal defect, eye anterior segment anomaly, hypopituitarism, or ectopic thyroid, among others).
Or, PHACE syndrome may be diagnosed in the abscense of a hemangioma but with 2 major criteria.
If in addition, there is sternal clefting and⁄or supraumbilical raphe, the term PHACES is used.
- Imaging should include MRI with and with contrast as well as MRA (MR angiogram).
- Patients at risk for stroke.
The hemangiomas are facial, typically large, segmental, prone to ulceration, and generally require treatment. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. [Pediatric Dermatology 2014;31;455–458]. Abortive hemangiomas have also been part of PHACE syndrome.
One study of PHACE syndrome found that most children did not have significant neurodevelopmental deficits. A subset of patients had delays in multiple areas [PD 2016;33;415].
A multidisciplinary team is needed for treatment. For the hemangioma, oral propranolol is used, but be cautious as may increase risk of stroke. Use TID (not BID) and lowest possible dose of propranolol (e.g. < 2 mg/kg/day). In urgent cases, if you don't have MRI/MRA data, can get an echocardiogram to rule out coarctation which is a contraindication for propranolol and then start low dose propranolol.
The combination of prednisolone and propranolol has been advocated [BJD 2015;173;242].
Before and after propranolol. Indian J Dermatol Venereol Leprol 2012;78:114-5
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