PHACES syndrome: A review

International Journal of Pediatric Otorhinolaryngology

Volumn 73, Issue 2, 2009, Pages 181-187

  Hartemink, David A ^a   Chiu, Yvonne E ^a   Drolet, Beth A ^a,b   Kerschner, Joseph E ^a,b  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b Children's Hospital of Wisconsin ^*  (United States)

Author keywords

Cervicofacial hemangioma; PHACES association

Indexed keywords

BRAIN MALFORMATION; CARDIOVASCULAR MALFORMATION; CEREBROVASCULAR MALFORMATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EYE MALFORMATION; FACE TUMOR; HEAD AND NECK CANCER; HEMANGIOMA; HUMAN; PHACES SYNDROME; POSTERIOR FOSSA; PRIORITY JOURNAL; REVIEW;

ABNORMALITIES, MULTIPLE; CARDIOVASCULAR ABNORMALITIES; CENTRAL NERVOUS SYSTEM; CEREBRAL ARTERIES; HEMANGIOMA; HUMANS; INFANT; INFANT, NEWBORN; OTORHINOLARYNGOLOGIC DISEASES; SKIN NEOPLASMS; SYNDROME;

EID: 57749179269     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2008.10.017     Document Type: Review

References (43)

1. Haggstrom A.N., Drolet B.A., Baselga E., Chamlin S.L., Garzon M.C., Horii K.A., et al. Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics. J. Pediatrics 150 (2007) 291-294
2. Haggstrom A.N., Drolet B.A., Baselga E., Chamlin S.L., Garzon M.C., Horii K.A., et al. Prospective study of infantile hemangiomas: clinical characteristics predicting complications and treatment. Pediatrics 118 (2006) 882-887
3. Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 16 (1978) 82-84
4. Frieden I.J., Reese V., and Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch. Dermatol. 132 (1996) 307-311
5. Metry D.W., Haggstrom A.N., Drolet B.A., Baselga E., Chamlin S., Garzon M., et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am. J. Med. Genet. A 140 (2006) 975-986
6. V.S. Oza, et al. PHACES Association: a neuroradiologic review of 17 patients. Am. J. Neuroradiol. January 25 (2008) Epub ahead of print.
7. Pascual-Castroviejo I., Pascual-Pascual S.I., López-Gutiérrez J.C., Velazquez-Fragua R., and Viaño J. Facial hemangioma and hemispheric migration disorder: presentation of 5 patients. Am. J. Neuroradiol. 28 (2007) 1609-1612
8. Heyer G.L., Millar W.S., Ghatan S., and Garzon M.C. The neurologic aspects of PHACE: case report and review of the literature. Pediatr. Neurol. 35 (2006) 419-424
9. Judd C.D., Chapman P.R., Koch B., and Shea C.J. Intracranial infantile hemangiomas associated with PHACE syndrome. Am. J. Neuroradiol. 28 (2007) 25-29
10. Poindexter G., Metry D.W., Barkovich A.J., and Frieden I.J. PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr. Neurol. 36 (2007) 402-406
11. Drolet B.A., Dohil M., Golomb M.R., Wells R., Murowski L., Tamburro J., et al. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 117 (2006) 959-964
12. Chamlin S.L., Haggstrom A.N., Drolet B.A., et al. Multicenter prospective study of ulcerated hemangiomas. J. Pediatrics 151 (2007) 684-689
13. A.N. Haggstrom, I.J. Frieden, M. Garzon, B.A. Drolet, Large facial hemangiomas: what is the risk of PHACE? Abstract, ISSVA 2008 Meeting, 2008.
14. Haggstrom A.N., Lammer E.J., Schneider R.A., Marcucio R., and Frieden I.J. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 117 (2006) 698-703
15. Heyer G.L., et al. The cerebral vasculopathy of PHACES syndrome. Stroke 39 (2008) 308-316
16. Metry D.W., Dowd C.F., Barkovich A.J., and Frieden I.J. The many faces of PHACE syndrome. J. Pediatrics 139 (2001) 117-123
17. Bhattacharya J.J., Luo C.B., Alvarez H., Rodesch G., Pongpech S., and Lasjaunias P.L. PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions. Neuroradiology 46 (2004) 227-233
18. Burrows P.E., Robertson R.L., Mulliken J.B., Beardsley D.S., Chaloupka J.C., Ezekowitz R.A., et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 207 (1998) 601-607
19. Lin M.C., Chen C.H., and Chi C.S. PHACE syndrome: report of one case. Acta Paediatr. Taiwan 44 (2003) 379-382
20. Aeby A., Guerrini R., David P., Rodesch G., Raybaud C., and Van Bogaert P. Facial hemangioma and cerebral corticovascular dysplasia: a syndrome associated with epilepsy. Neurology 60 (2003) 1030-1032
21. Billson V.R., and Gillam G.L. An unusual case of Sturge-Weber syndrome. Pathology 16 (1984) 462-465
22. Lasky J.B., Sandu M., and Balashanmugan A. PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. J. AAPOS 8 (2004) 495-498
23. Luo C.B., Lasjaunias P., Teng M.M., Chang F.C., Lirng J.F., and Chang C.Y. Cervico-cerebrovascular anomalies in children with PHACE syndrome. J. Formos. Med. Assoc. 102 (2003) 379-386
24. Pascual-Castroviejo I., Viaño J., Pascual-Pascual S.I., and Martinez V. Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report. Neuroradiology 37 (1995) 692-695
25. Slavotinek A.M., Dubovsky E., Dietz H.C., and Lacbawan F. Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. Am. J. Med. Genet. 110 (2002) 283-288
26. Espuñes S.P., Santos-Juanes J., Villanueva A.M., Torre A.C., Galán C.R., and Del Rio J.S. Death from cerebrovascular infarction in a patient with PHACES syndrome. J. Am. Acad. Dermatol. 51 (2004) 142-143
27. deVeber G. Arterial ischemic strokes in infants and children: an overview of current approaches. Semin. Thromb. Hemost. 29 (2003) 567-573
28. Nowak-Gottl U., Straeter R., Sebire G., and Kirkham F. Antithrombotic drug treatment of pediatric patients with ischemic stroke. Paediatr. Drugs 5 (2003) 167-175
29. Kirkham F.J., and Hogan A.M. Risk factors for arterial ischemic stroke in childhood. CNS Spectr. 9 (2004) 451-464
30. Rao R.P., Drolet B.A., Holland K.E., and Frommelt P.C. PHACES association: a vasculocutaneous syndrome. Pediatr. Cardiol. (2008) Epub ahead of print
31. Chien S.Y., Sung T.C., Mu S.C., and Hu C.C. Aneurysm of the ascending aorta in a neonate. Acta Paediatr. Taiwan 40 (1999) 121-123
32. Pasic M., Carrel T., Tonz M., et al. Sternal cleft associated with vascular anomalies and micrognathia. Ann. Thorac. Surg. 56 (1993) 165-168
33. Poetke M., Frommeld T., and Berlien H.P. PHACE syndrome: new views on diagnostic criteria. Eur. J. Pediatr. Surg. 12 (2002) 366-374
34. Raas-Rothschild A., Nir A., Gillis R., and Rein A.J. Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review. Am. J. Med. Genet. 90 (2000) 243-245
35. Schieken L.S., Brenner J.I., Baker K.R., Ringel R.E., and Pacifico A. Aneurysm of the ascending aorta associated with sternal cleft, cutaneous hemangioma, and occlusion of the right innominate artery in a neonate. Am. Heart J. 113 (1987) 202-204
36. Schneeweiss A., Blieden L.C., Shem-Tov A., Motro M., Feigel A., and Neufeld H.N. Coarctation of the aorta with congenital hemangioma of the face and neck and aneurysm or dilatation of a subclavian or innominate artery. A new syndrome?. Chest 82 (1982) 186-187
37. Smith D.S., Lee K.K., and Milczuk H.A. Otolaryngologic manifestations of PHACE syndrome. Int. J. Pediatr. Otorhinolaryngol. 68 (2004) 1445-1450
38. Zeevi B., and Berant M. Unusual malformation of the aortic arch in a patient with a large facial hemangioma. Cardiol. Young 9 (1999) 539-540
39. Coats D.K., Paysse E.A., and Levy M.L. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology 106 (1999) 1739-1741
40. Ghosh A., Tibrewal S.R., and Thapa R. PHACES syndrome with congenital hypothyroidism. Indian Pediatr. 44 (2007) 144-147
41. Huang S.A., Tu H.M., Harney J.W., Venihaki M., Butte A.J., Kozakewich H.P., et al. Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. N. Engl. J. Med. 343 (2000) 185-189
42. Goddard D.S., Liang M.G., Chamlin S.L., Svoren B.M., Spack N.P., and Mulliken J.B. Hypopituitarism in PHACES association. Pediatr. Dermatol. 23 (2006) 476-480
43. Badi A., Kerschner J.E., North P., Messner A., Perkins J., and Drolet B.A. Histopathological and immunophenotypic profile of subglottic hemangioma: multi-center study with literature review. Proceedings of the SENTAC Annual Meeting. Milwaukee, WI, December 2 (2007)