Synonym(s)
OMIM 606519; PHACES; PHACE Syndrome
HistoryThis section has been translated automatically.
Frieden et al. 1996
DefinitionThis section has been translated automatically.
Acronym for a syndrome with brain malformations in the posterior fossa, a hemangioma of the face, anatomical anomalies of the cerebral arteries, coarctatio aortae and other cardiac and eye anomalies. Recently, a stenosis of vessels at the base of the skull and a segmental longitudinal widening of the internal carotid artery have been added. If there are also anomalies of the sternum, this constellation is called PHACES.
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Occurrence/EpidemiologyThis section has been translated automatically.
Rare syndrome of which less than 100 cases have been described so far.
EtiopathogenesisThis section has been translated automatically.
The cause of the syndrome is not known. Among other things, the X-linked dominant inheritance with lethality in the male sex has been described.
ManifestationThis section has been translated automatically.
Women are 8 times more frequently affected than men.
Clinical featuresThis section has been translated automatically.
A complete clinical manifestation of the PHACE syndrome is very rare, most patients have only a partial phenotype (an incomplete clinical spectrum). The capillary hemangiomas are morphologically, clinically and in the course of time similar to sporadic infant hemangiomas. Intracranial and subarachnoid hemangiomas may occur simultaneously, with intracranial lesions developing in the same way as maxillo-facial and cervical hemangiomas. Eye anomalies of the syndrome include glaucoma, coloboma, microphthalmia, cryptophthalmia and optic nerve hypoplasia.
External therapyThis section has been translated automatically.
Good therapeutic success of the skin hemangiomas was achieved with topical beta-blockers (see infant hemangioma).
LiteratureThis section has been translated automatically.
Khunger N et al (2011) Dramatic response to topical timolol lotion of a large hemifacial infantile haemangioma associated with PHACE sndrome. BJD 164: 878-899
Recommended articles
Incoming links (1)
Phaces;Outgoing links (1)
Infant haemangioma (overview);Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer