The cerebral vasculopathy of PHACES syndrome

Geoffrey L. Heyer, Michael M. Dowling, Daniel J. Licht, Stacey Kiat Hong Tay, Kimberly Morel, Maria C. Garzon, Philip Meyers

Research output: Contribution to journalArticle

68 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)308-316
Number of pages9
JournalStroke
Volume39
Issue number2
DOIs
StatePublished - Feb 2008

Fingerprint

Blood Vessels
Hemangioma
Arteries
Neurocutaneous Syndromes
Embryology
Embryonic Development
Medical Records
Aneurysm
Pathologic Constriction
Skin

Keywords

  • Hemangioma
  • Moyamoya
  • PHACE
  • PHACES
  • Vasculopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Neuroscience(all)
  • Medicine(all)

Cite this

Heyer, G. L., Dowling, M. M., Licht, D. J., Tay, S. K. H., Morel, K., Garzon, M. C., & Meyers, P. (2008). The cerebral vasculopathy of PHACES syndrome. Stroke, 39(2), 308-316. https://doi.org/10.1161/STROKEAHA.107.485185

The cerebral vasculopathy of PHACES syndrome. / Heyer, Geoffrey L.; Dowling, Michael M.; Licht, Daniel J.; Tay, Stacey Kiat Hong; Morel, Kimberly; Garzon, Maria C.; Meyers, Philip.

In: Stroke, Vol. 39, No. 2, 02.2008, p. 308-316.

Research output: Contribution to journalArticle

Heyer, GL, Dowling, MM, Licht, DJ, Tay, SKH, Morel, K, Garzon, MC & Meyers, P 2008, 'The cerebral vasculopathy of PHACES syndrome', Stroke, vol. 39, no. 2, pp. 308-316. https://doi.org/10.1161/STROKEAHA.107.485185
Heyer GL, Dowling MM, Licht DJ, Tay SKH, Morel K, Garzon MC et al. The cerebral vasculopathy of PHACES syndrome. Stroke. 2008 Feb;39(2):308-316. https://doi.org/10.1161/STROKEAHA.107.485185
Heyer, Geoffrey L. ; Dowling, Michael M. ; Licht, Daniel J. ; Tay, Stacey Kiat Hong ; Morel, Kimberly ; Garzon, Maria C. ; Meyers, Philip. / The cerebral vasculopathy of PHACES syndrome. In: Stroke. 2008 ; Vol. 39, No. 2. pp. 308-316.
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AB - 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.

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