PHACE(S), syndrome
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(Pascual-Castroviejo type 2 syndrome)
Acronym for Posterior fossa, cephalic Hemangioma, intra-extracranial Arterial anomalies, Coarctation of the aorta, Eye anomalies and abnormalities of Sternum if (S) )
Rare. X-linked dominant transmission with strong female prevalence (90 %).
Neuro-cutaneous syndrome (see table for the diagnostic criteria) associating:
- posterior fossa malformations: Dandy-Walker, cortical dysplasia, microcephaly, ...
- one or more large facial hemangioma with a segmental topography: 20 % of children with a large facial hemangioma present at least one of the anomalies associated with PHACES
- anomalies of the cerebral arteries which are divided into 4 categories: 1) dysplasia (52 %): segmental longitudinal dilations of the internal carotid, kinking, anevrysmal ectasies; 2) stenosis (45-48 %), hypoplasia or agenesis of vessels at the base of the skull 3) aberrant origin or pathway (28-44 %) ; 4) persistence of embryonic anastomoses, especially the trigeminal artery (12-16 %); risk of stroke (especially in case of corticosteroid therapy). Sometimes Moyamoya type anomalies.
- cardiac defects: aortic coarctation (14.5 %), often over a long segment and accompanied by anomalies of the brachiocephalic vessels, right aortic arch, patent ductus arteriosus, ASD, VSD, aneurysm of the ascending aorta...
- eye anomalies on the same side as the hemangioma: microphthalmia, retinal anomalies, coloboma, glaucoma, morning glory syndrome (see this term).
Sometimes there can be:
- sternal cleft or a sus-umbilical raphe
- congenital hypothyroidism with lingual thyroid
There are also frequently extracutaneous hemangiomas the most common location being the subglottic hemangioma (50 %). It is recommended to perform a diagnostic endoscopy of the upper airway in any PHACE(S) child presenting with respiratory problems or facial hemangioma with a beard distribution. The indication of any treatment with propranolol should be individualized, taking into account the possibility of vascular cerebral (risk of stroke) and/or cardiac anomalies
PHACE syndrome |
facial hemangioma > 5 cm + 1 major criterion or 2 minor criteria |
possible PHACE syndrome |
facial hemangioma > 5 cm + 1 minor criteria or hemangioma of the neck or upper chest + 1 major criterion or 2 minor criteria or absence of hemangioma and 2 major criteria |
Organ/system |
Major criteria |
Minor criteria |
cerebrovascular |
abnormalities of the large cerebral arteries: - dysplasia - occlusion or stenosis with or without Moyamoya arterial - aplasia or variable hypoplasia - aberrant origin or pathway - saccular aneurysms - persistence of the trigeminal artery |
persistence of other embryonic arteries than the trigeminal artery: otic artery, hypoglossal artery, intersegmental artery anterior to the atlas |
brain |
anomaly of the posterior fossa: Dandy-Walker, cerebellar hypoplasia or dysplasia |
extra-axial lesions compatible with an intracranial hemangioma; anomaly of the median line; neuronal migration disorder |
cardiovascular |
aortic arch anomaly: coarctation, aneurysm, aberrant origin of the subclavian artery |
VSD, double aortic arch |
ocular |
posterior segment abnormalities: fetal vasculature of the vitreous body, optic nerve hypoplasia, coloboma, peripapillary staphyloma, Morning Glory type anomaly of the optical disc |
anterior segment anomalies: cataract, coloboma, microphthalmia |
median structure |
sternal cleft supraombilical raphe |
ectopic thyroid hypopituitarism |
Anesthetic implications:
echocardiography to evaluate the cardiovascular malformations. Possible presence of a subglottic hemangioma (stridor ?). Significant risk of stroke with or without convulsions: maintain adequate cerebral perfusion pressure and avoid hypocapnia: transcutaneous monitoring of cerebral saturation could be useful. Sometimes patients under beta-blockers to treat the hemangiomas.
References :
- Javault A, Metton O, Raisky O, Bompard D, Hacheni M, Gamondes D, Ninet J, Neidecker J, Lehot JJ, Cannesson M.
Anesthesia management in a child with PHACE syndrome and agenesis of bilateral carotid arteries.
Pediatr Anesth 2007; 17: 989-93.
- Hartemink DA, Chiu YE, Drolet BA, Kerschner JE.
PHACES syndrome: a review.
Int J Pediatr Otorhinolaryng 2009; 73: 181-7.
- Metry D, Heyer G, Hess C, Garzon M et al.
Consensus statement on diagnostic criteria for PHACE syndrome.
Pediatrics 2009; 124: 1447-56.
- Gross BC, Janus JR, Orvidas LJ.
Response of infantile airway and facial hemangiomas to propranolol in a patient with PHACES syndrome.
Int J Pediatr Otorhinolaryng Extra 2012; 7: 183-9.
- Shah MS, Verghese ST
When faced with anesthetizing an infant with PHACES: watch out for an airway-occluding subglottic hemangioma !
A&A Case Reports 2017; 9:334-54
- Durr ML, Meyer AK, Huoh KC, Frieden IJ, Rosbe KW.
Airway hemangiomas in PHACE syndrome.
The Laryngoscope 2012; 122: 2323-9.
- Shah MS, Verghese ST.
When faced with anesthetizing an infant with PHACE syndrome: watch out for an airway-occluding subglottic hemangioma!
A&A Case Reports 2017; 9: 334-5
- Escarza BS, Cruz-Beltran S, Lessans G, Austin TM, Lam HV.
Are pediatric patients with PHACE association at high risk for anesthetic complications?
Pediatr Anesth 2021; 31:39-41.
Updated: February 2021