Giant hemifacial angioma and PHACE syndrome

Qukcedo, E.; Gil-Mateo, M. P.; Pont, V.; Febrer, M.I.; Aliaga, Adolfo

doi:10.1111/j.1365-2133.1997.tb02178.x

Cited by 15 publications

(12 citation statements)

References 10 publications

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“…Cerebrovascular malformations are frequently associated with facial hemangiomas and mainly represented by the absence or hypoplasia of the carotid or vertebral arteries and aneurysmal dilatation of the carotid artery [Pascual‐Castroviejo, 1978, 1985; Quecedo et al, 1997; Metry et al, 2001]. Occasionally, progressive occlusive vascular changes may be noted with acquired neurological symptoms [Burrows et al, 1988].…”

Section: Discussionmentioning

confidence: 99%

Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?

Grosso

Cosmo

Bonifazi

et al. 2003

American J of Med Genetics Pt A

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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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Section: Discussionmentioning

confidence: 99%

Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?

Grosso

Cosmo

Bonifazi

et al. 2003

American J of Med Genetics Pt A

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“…Among the eye anomalies, the most common is microphthalmos, followed by cataracts, optic atrophy, and iris hypoplasia (Metry et al, 2001). These are present ipsilateral to the hemangioma and are seen in about one fifth of cases of PHACE syndrome (Quecedo et al, 1997).…”

Section: Discussionmentioning

confidence: 98%

“…Cardiac abnormalities include coarctation of the aorta (most common) and ventricular and atrial septal defects (Metry et al, 2001). The aortic arch may manifest defects like cervical aortic arch, absent right aortic arch, and hypoplastic ascending aorta, usually present ipsilateral to the hemangioma (Metry et al, 2001;Quecedo et al, 1997). Sternal defects commonly include asternia, sternal clefting, and sternal pits (Frieden et al, 1996).…”

Section: Discussionmentioning

confidence: 98%

“…A strong female predilection has been noted much more than observed in sporadic hemangiomas and X-chromosome linked dominance has been suggested (Chiller et al, 2002). Twenty percent of patients with segmental hemangiomas of the face are now known to be associated with PHACE syndrome (Quecedo et al, 1997). A developmental error occurring between the sixth and tenth weeks of gestation is considered to be responsible for this condition (Boulinguez et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

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PHACE Syndrome Associated With Congenital Oculomotor Nerve Palsy

et al. 2009

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PHACE syndrome is a multisystem disorder presenting with facial hemangiomas, arterial anomalies, cardiac anomalies, posterior fossa malformations and eye abnormalities. The eye abnormalities include microphthalmos, cataracts, optic atrophy and iris hypoplasia. Amongst the neurological anomalies, posterior fossa malformations are common. Fourth nerve palsy has been reported with PHACE syndrome. We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.

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“…Furthermore, hemangiomas, unlike vascular malformations, are uncommonly associated systemic malformations [10]. PHACE syndrome should be considered when other anomalies are found associated with facial hemangiomas.…”

Section: Discussionmentioning

confidence: 99%