Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome

Pascual-Castroviejo, I

doi:10.1007/978-3-211-69500-5_2

Cited by 7 publications

(5 citation statements)

References 110 publications

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“…Other arterial abnormalitites were present on both sides of the neck. A possible association between the cutaneous hemangiomas and multiorgan disease [10] , including auditory organ malformation among these, suggests that the presence of a stapedial artery on the contralateral side in this patient is equally as possible as on the ipsilateral side.…”

Section: Discussion ▼mentioning

confidence: 85%

Persistence of the Stapedial Artery Associated with Facial Hemangioma: A Case Report

Pascual-Castroviejo

Pascual²,

Velazquez-Fragua³

2010

Neuropediatrics

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We report on a girl with a left facial hemangioma and absence of the right ear and canal who also showed absence of the left vertebral and anterior cerebral arteries (ipsilateral to the facial hemangioma), and absence of the external carotid artery and presence of stapedial artery on the right side (contralateral to the facial hemangioma and ipsilateral to the auditory organ malformation). Persistence of the stapedial artery may be related to the facial hemangioma or with the hemifacial hypoplasia with similar possibilities. This is the first case to the best of our knowledge of the association between P-CIIS and a persistent stapedial artery.

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Section: Discussion ▼mentioning

confidence: 85%

Persistence of the Stapedial Artery Associated with Facial Hemangioma: A Case Report

Pascual-Castroviejo

Pascual²,

Velazquez-Fragua³

2010

Neuropediatrics

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“…Absence or hypoplasia of the carotid or vertebral arteries or its branches and persistence of embryonic arteries have been known since the first descriptions of this syndrome, [4][5][6]14 and they have been traditionally considered as rare anomalies. Most of the time, these features have been found in adults who were studied angiographically after strokes or transient ischemic attacks.…”

Section: Discussionmentioning

confidence: 99%

“…The syndrome first described by Pascual-Castroviejo 4 in 1978 is thought to be the most frequent neurocutaneous syndrome. 5 This syndrome is also known as ''cutaneous hemangiomas: vascular anomaly complex,'' 6,7 PHACE (this acronym denotes the major features described previously by Pascual-Castroviejo 4 ; P, posterior fossa malformations; H, hemangioma; A, arterial anomalies; C, coarctation of the aorta and other cardiac defects; and E, eye abnormalities, mostly secondary to the eye closure by the facial hemangioma, and not a congenital anomaly), 8 Pascual-Castroviejo type II syndrome, [9][10][11] PHACES association, 12 and PHACE association (Pascual-Castroviejo II syndrome). 5 The syndrome includes the following embryonic anomalies [4][5][6][7][8][9][10][11][12] : (1) cutaneous hemangioma or vascular malformation located anywhere in the body but most commonly in the face; (2) absence of the carotid arteries, vertebral arteries, or both, most frequently (but not necessarily) ipsilateral to the facial vascular abnormality;…”

mentioning

confidence: 99%

Major and Minor Arterial Malformations in Patients With Cutaneous Vascular Abnormalities

Pascual-Castroviejo

Pascual

Viaño³

et al. 2009

J Child Neurol

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The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery. Thirteen patients showed absence or hypoplasia of 1 carotid artery and 10 of 1 vertebral artery; 10 showed persistence of the trigeminal artery; 3 had persistent proatlantal artery; 6 showed the absence of the posterior communicating artery; and 4 had hypoplastic posterior cerebral artery. Other less frequent abnormalities were found in 7 patients. Intellectual level of most patients was either borderline or below normal. Abnormalities in the vascularization and perfusion of the frontal lobes may contribute to the borderline or lower mental level of these patients.

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“…These intracranial vascular anomalies and the stenosis of both renal arteries are frequently seen in NF1 [7] . She also had aortic arch coarctation, (which appears in the P-CII-S) [6] and intraspinal vascular malformation (characteristic of the Cobb syndrome, a disorder that could be a subtype of the P-CII-S) [11] .…”

Section: Case Reportmentioning

confidence: 99%

“…Cobb described the association of skin naevi in the midposterior thoracic area and venous or arteriovenous malformations and possible compression of the spinal cord [3] . This disorder may correspond to a localized type of the Pascual-Castroviejo type II syndrome (P-CII-S) [10,11] (also known as PHACE). We are not aware of any report in which the association of both neurocutaneous disorders has been previously described.…”

Section: Introductionmentioning

confidence: 99%

Segmental Neurofibromatosis Type 1 (NF1) Associated with Cobb Syndrome: Case Report

Pascual-Castroviejo¹,

Pascual²,

Viaño³

2008

Neuropediatrics

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We present a 3-month-old girl who showed segmental NF1 and Cobb syndrome. She has a cutaneous vascular malformation located on the middle T (4)-T (6) region superimposed on a giant cutaneous café-au-lait spot. Magnetic resonance arteriography (MRA) revealed bilateral renal artery stenosis, extensive hypertrophy of the spinal epidural venous plexus, coarctation and tubular hypoplasia of the aortic arch and proximal portion of descending aorta. To the best of our knowledge the association of both neurocutaneous disorders has not being previously described.

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Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome

Cited by 7 publications

References 110 publications

Persistence of the Stapedial Artery Associated with Facial Hemangioma: A Case Report

Persistence of the Stapedial Artery Associated with Facial Hemangioma: A Case Report

Major and Minor Arterial Malformations in Patients With Cutaneous Vascular Abnormalities

Segmental Neurofibromatosis Type 1 (NF1) Associated with Cobb Syndrome: Case Report

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