PHACE syndrome

PHACE syndrome

(fās)
A rare disorder in which a child is born with facial hemangiomas and malformations of the brain, eyes, heart, and great vessels. The acronym PHACE denotes that abnormalities include posterior brain fossa maldevelopment, hemangiomas of the face, arterial malformations, cardiac disease, and structural problems of the eye.
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References in periodicals archive ?
The approach to hemangiomas is remarkably different than decades ago, as we have learned about PHACE syndrome with facial hemangiomas, systemic propranolol for functionally significant and deforming hemangiomas, timolol for early superficial lesions, and that the timing for intervention to minimize their impact is very early in life.
The carotid artery anomalies associated with PHACE syndrome (including aplasia/hypoplasia, stenosis and redundancy) as well as persistent stapedial arteries encountered in the temporal bone are included within this category.
(PHACE syndrome: malformations in the posterior fossa of the brain, extensive facial hemangioma, arterial, cardiac and eye abnormalities.
PHACE syndrome is relatively uncommon neurocutaneous disorder.
PHACES SYNDROME is PHACE syndrome plus: Sternal cleft, supraumbilical raphe, or both.
Drolet et al., "A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications," American Journal of Medical Genetics, vol.
-- Children with large facial hemangiomas with Si involvement, a lesion area greater than 25 [cm.sup.2], or bilateral location should be prioritized for PHACE syndrome work-up.
Remember that facial or scalp hemangiomas that are 5 cm or larger may be associated with PHACE syndrome and require early specialist evaluation and imaging of the brain, great vessels, and heart.
Syndromes associated with DWM include PHACE syndrome (posterior fossa abnormalities, haemagiomas, arterial anomalies, coarctation of aorta, cardiac defects and eye abnormalities) and Ellis-Van Creveld Syndrome.
The newly reported cases with PHACE syndrome (Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities) suggests further expansion of the spectrum of PHACE to include other forms of disordered cerebral development and endocrine dysfunction.