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  • Title: Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?
    Author: Grosso S, De Cosmo L, Bonifazi E, Galluzzi P, Farnetani MA, Loffredo P, Anichini C, Berardi R, Morgese G, Balestri P.
    Journal: Am J Med Genet A; 2004 Jan 15; 124A(2):192-5. PubMed ID: 14699619.
    Abstract:
    Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.
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