Marked female predilection in some syndromes associated with facial hemangiomas

Gorlin, Robert J.; Kantaputra, Piranit Nik; Aughton, David J.; Mulliken, John B.

doi:10.1002/ajmg.1320520203

Cited by 90 publications

(55 citation statements)

References 50 publications

(6 reference statements)

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“…[7][8][9][10][11] In contrast to several heritable vascular malformation syndromes (eg, hereditary hemorrhagic telangiectasia, cerebral vascular malformations, and mucocutaneous venous vascular malformations), syndromes associated with hemangiomas do not appear to be inherited. Interestingly, Gorlin et al 12 observed a marked female predilection in syndromes associated with facial hemangiomas that far exceeded the expected 3:1 to 4:1 female-male ratio.…”

Section: Methodsmentioning

confidence: 98%

Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

Blei¹,

Walter²,

Orlow³

et al. 1998

Arch Dermatol

167

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Section: Methodsmentioning

confidence: 98%

Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

Blei¹,

Walter²,

Orlow³

et al. 1998

Arch Dermatol

167

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“…1,7 All patients had large infantile hemangiomas minimally affecting regions of the head and neck. The hemangiomas localized to facial regions that generally corresponded to the facial segments (segments 1 to 4) described by Haggstrom and colleagues.…”

Section: Demographics and Cutaneous Featuresmentioning

confidence: 99%

The Cerebral Vasculopathy of PHACES Syndrome

Heyer

Dowling

Licht

et al. 2008

Stroke

105

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Background and Purpose-PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies. Methods-The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed the clinical characteristics, calculated the relative frequencies of each type of vascular anomaly, and assessed site of vessel involvement relative to hemangioma location. Results-Among a total of 115 PHACES cases, 89 (77.4%) had congenital and/or progressive cerebral vascular anomalies.The most commonly detected congenital arterial anomalies included dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis. Arterial occlusions and stenoses were detected in 24 (20.9%) and 21 (18.3%) cases, respectively. Twenty (17.4%) had persistent embryonic arteries; 15 (13%) had saccular aneurysms. There appears to be a close relation between the regional distributions of cervicofacial hemangiomas and the locations of intracranial and extracranial vascular (and cardiac) anomalies. Conclusion-The vasculopathy of PHACES chiefly comprises a spectrum of congenital and progressive large artery lesions. Based on known embryology and the relative frequencies of specific congenital vascular anomalies, we can predict that the initial cerebral vascular changes occur early in embryogenesis, by the fifth gestational week or earlier.There appears to be both a temporal and a regional link between the arterial anomalies of PHACES and the cutaneous infantile hemangioma. (Stroke. 2008;39:308-316.)

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“…Some series have found a skewed sex predilection, with female infants outnumbering male infants, especially when the cleft is accompanied by a combination of a supraumbilical raphe and facial hemangiomas. 5 Clinically, infants with a sternal cleft have a concave midline thoracic defect, which can be associated with paradoxical movement of the chest wall during respiration. The changes in intrathoracic pressure that result from this paradoxical movement can cause displacement of the heart and large vessels and impairment of venous return.…”

Section: Discussionmentioning

confidence: 99%

Superior Sternal Cleft Associated With PHACES Syndrome

Mazzie¹,

Lepore

Price³

et al. 2003

Journal of Ultrasound in Medicine

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ternal cleft is a rare congenital malformation caused by complete or partial failure of the sternum to fuse during the third month of embryologic development. Cleft sternums can be classified as superior, inferior, or complete. Sternal clefting is also associated with the PHACES syndrome, a neurocutaneous syndrome consisting of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, eye abnormalities, and sternal clefting with or without abdominal raphae. We present the case of a 1-day-old girl who was born at our institution with a variant of the PHACES syndrome. Although the sternal cleft was evident clinically, sonography provided additional information compared with plain radiography in showing the extent of the anterior chest wall abnormalities. The literature on this rare condition is reviewed.

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Marked female predilection in some syndromes associated with facial hemangiomas

Cited by 90 publications

References 50 publications

Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

The Cerebral Vasculopathy of PHACES Syndrome

Superior Sternal Cleft Associated With PHACES Syndrome

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