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

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

Cutaneous hemangiomas and associated pathology (PHACE association) (OMIM 606519), first described by Pascual-Castroviejo in 1978, is the most frequent neurocutaneous syndrome (Pascual- Castroviejo et al. 1996, Pascual-Castroviejo 2004).

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References

  • Achauer BM, Celikoz B, Vanderkam VM (1998) Intrale-sional bare fiber laser treatment of hemangioma of ingiomas. Plas Reconstr Surg 101: 1212–1217.

    Article  CAS  Google Scholar 

  • Achauer BM, Chang CJ, Vanderkam VM, Boyko A (1999) Intralesional photocoagulation of periorbital hemangiomas. Plas Reconstr Surg 103:11–16.

    Article  CAS  Google Scholar 

  • Aeby A, Guerrini R, David P, Rodesch G, Raybaud C, Van Bogaert P (2003) Facial hemangioma and cerebral corticovascular dysplasia. A syndrome associated with epilepsy. Neurology 60:1030–1032.

    PubMed  CAS  Google Scholar 

  • Amir J, Knikler A, Reisner SH (1986) Strawberry hemangioma in preterm infants. Pediatr Dermatol 3: 131–132.

    Article  Google Scholar 

  • Baker LL, Dillon WP, Hieshima GB, Dowd CF, Frieden I (1993) Hemangiomas and vascular malformations of the head and neck: MR characterization. Am J Neuroradiol 14: 307–314.

    PubMed  CAS  Google Scholar 

  • Barlow CF, Priebe CJ, Mulliken JB, Barnes PD, McDonald D, Folkman J, Ezekowith RAB (1998) Spastic diplegia as a complication of interferon alfa-2a treatment of hemangiomas of infancy. J Pediatr 132: 527–530.

    Article  PubMed  CAS  Google Scholar 

  • Bartoshesky LE, Bull M, Feingold M (1978) Corticosteroid treatment of cutaneous hemangiomas: how effective? Clin Pediatr 17: 625–638.

    Article  CAS  Google Scholar 

  • Belánger Quintana A, Aparicio Meix JM, Quintana Castilla A (2002) Sìndrome de Pascual-Castroviejo II: asociaciön de hemangioma facial, alteratión de la fosa posterior y car-diopatìa congènita. An Esp Pediatr 57: 588–589.

    PubMed  Google Scholar 

  • Berg JN, Walter JW, Thisanagayam M, Evans M, Blei F, Waner M, Diamond AG, Marchuk DA, Porteous ME (2001) Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation? J Clin Patol 54: 249–252.

    Article  CAS  Google Scholar 

  • Blei F, Walter J, Orlow SJ, Marchuk DA (1998) Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. Arch Dermatol 134: 718–722

    Article  PubMed  CAS  Google Scholar 

  • Boon LM, Enjolras O, Mulliken JB (1999) Congenital hemangioma: evidence of accelerated involution. J Pediatr 128: 329–335.

    Google Scholar 

  • Boon LM, McDonald DM, Mulliken JB (1999) Complications of systemic corticosteroid therapy for problematic hemangioma. Plast Reconstr Surg 104:1616–1623.

    Article  PubMed  CAS  Google Scholar 

  • Boudreau N, Andrews C, Srebrow A, Ravanpay A, Cheresh DA (1997) Hox D3 induces an angiogenic phenotype in endothelial cells. J Cell Biol 139: 257–264.

    Article  PubMed  CAS  Google Scholar 

  • Boyd JB, Mulliken JB, Kaban LB, Upton J, Murray JE (1984) Skeletal changes associated with vascular malformations. Plast Reconstr Surg 74: 789–795.

    PubMed  CAS  Google Scholar 

  • Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B (2003) Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5ql4. J Med Genet 40: 849–853.

    Article  PubMed  CAS  Google Scholar 

  • Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MMAM, Van dr Horst CM, Hennekam RCM (2002) A locus for hereditary capillary malformations mapped on chromosome 5q. Hum Genet 110: 343–347.

    Article  PubMed  CAS  Google Scholar 

  • Breugem CC, van der Horst CMAM, Hennekam RCM (2002a) Progress toward understanding vascular malformations. Plast Reconstr Surg 107:1509–1523.

    Article  Google Scholar 

  • Brouillard P, Vikkula M (2003) Vascular malformations: localized defects in vascular morphogenesis. Clin Genet 63: 340–351.

    Article  PubMed  CAS  Google Scholar 

  • Burke EC, Winkelman RK, Strickland MK (1964) Disseminated hemangiomatosis: The newborn with central nervous system involvement. Am J Dis Child 108: 418–424.

    PubMed  CAS  Google Scholar 

  • Burns AJ, Kaplan LC, Mulliken JB (1991) Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics 88:1257–1267.

    PubMed  CAS  Google Scholar 

  • Burrows PE, Robertson RL, Mulliken JB, Beardsley DS, Chaloupka JC, Ezekowitz RA (1998) Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: Report of eight patients. Radiology 207: 601–607.

    PubMed  CAS  Google Scholar 

  • Burton BK, Schulz CJ, Angle B, Burd LI (1995) An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS). Prenat Diagn 15:209–214.

    Article  PubMed  CAS  Google Scholar 

  • Byard RW, Burrows PE, Izakawa T, Silver MM (1991) Diffuse infantile hemangiomatosis: clinicopathological features and management problems in five fatal cases. Eur J Pediatr 150: 224–227.

    Article  PubMed  CAS  Google Scholar 

  • Capin DM, Gottlieb S, Rosman NP (1997) Central nervous system hemangiomatosis in early childhood. Pediatr Neurol 17: 365–370.

    Article  PubMed  CAS  Google Scholar 

  • Carmeliet P (2000) Developmental biology. One cell, two fates. Nature 408: 43–45.

    Article  PubMed  CAS  Google Scholar 

  • Carmeliet P (2003) Angiogenesis in health and disease. Nat Med 9: 653–660.

    Article  PubMed  CAS  Google Scholar 

  • Chateil JF, Saragne-Feuga C, Pèrel Y, Brun M, Neuenschwander S, Vergnes P, Diard F (2000) Capillary haemangioma of the greater omentum in a 5-month-old female infant: a case report. Pediatr Radiol 30: 837–839.

    Article  PubMed  CAS  Google Scholar 

  • Coats DK, Paysse EA, Levy ML (1999) PHACE: a neurocutaneous syndrome with important ophthalmology implication. Case report and literature review. Ophthalmology 106:1739–1741.

    Article  PubMed  CAS  Google Scholar 

  • Cobb S (1915) Haemangioma of the spinal cord associated with skin naevi of the same metamere. Ann Surg 62: 140:2013–2038.

    Google Scholar 

  • Cohen MM Jr (2006) Vascular update: morphogenesis, tumors, malformations, and molecular dimensions. Am J Med Genet A 140: 2013–2038.

    PubMed  Google Scholar 

  • Cohen MM Jr (2007) Hemangiomas: their uses and abuses. Am J Med Genet A 143: 235–240.

    PubMed  Google Scholar 

  • Congdon ED (1922) Transformation of aortic arch system during the development of the human embryo. Contrib Embryol 14: 47–110.

    Google Scholar 

  • Cooper AG, Bolande RP (1965) Multiple hemangiomas in an infant with cardiac hypertrophy. Post-mortem angiographic demostration of the arteriovenous fistulae. Pediatrics 35: 27–35.

    PubMed  CAS  Google Scholar 

  • D’Amato RJD, Loughnan MS, Flynn E, Folkman J (1994) Thalidomide is an inhibitor of angiogenesis. Proc Natl Acad Sci 91: 4082–4085.

    Article  PubMed  Google Scholar 

  • Dandy WE, Blackfan KD (1914) Intenal hydrocephalus: an experimental, clinical and pathological study. Am J Dis Child 8: 406–482.

    Google Scholar 

  • Dieterich-Miller CA, Safford PL (1992) Psychosocial development of children with hemangiomas: home school, health care collaboration. Children’s Health Care 21: 84–89.

    Article  PubMed  CAS  Google Scholar 

  • Doppman JL, Wirth FP Jr, Di Chiro G, Ommaya AK (1969) Value of cutaneous angiomas in the arteriographic localization of spinal cord arteriovenous malformations. N Engl J Med 281:1440–1444.

    PubMed  CAS  Google Scholar 

  • Drolet BA, Esterly NB, Frieden IJ (1999) Hemangiomas in children. N Engl J Med 341:173–181.

    Article  PubMed  CAS  Google Scholar 

  • Drolet BA, Dohil M, Golomb MR, Wells R, Murowski L, Tamburro J, Sty J, Friedlander SF (2006) Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 117: 959–964.

    Article  PubMed  Google Scholar 

  • Drosou A, Benjamin L, Linfante I, Mailin K, Trowers A, Wakhloo AK, Thaller SR, Schachner LA (2006) Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome. J Am Acad Dermatol 54: 348–352.

    Article  PubMed  Google Scholar 

  • Dubois J, Garel L (1999) Imaging and therapeutic approach of hemangiomas and vascular malformations in the pe-diatric age group. Pediatr Radiol 29: 879–893.

    Article  PubMed  CAS  Google Scholar 

  • Eerola I, Boom LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M (2002) Locus for susceptibility for familial capillary malformation (“port-wine staine”) maps to 5q. Eur J Hum Genet 10: 375–380.

    Article  PubMed  CAS  Google Scholar 

  • Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M (2003) Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASAI mutations. Am J Hum Genet 73:1240–1249.

    Article  PubMed  CAS  Google Scholar 

  • Enjolras O, Riche MC, Merland JJ, Escaude JP (1990) Management of alarming hemangiomas in infancy: a review of 25 cases. Pediatrics 85: 491–498.

    PubMed  CAS  Google Scholar 

  • Esterly N (1995) Cutaneous hemangiomas, vascular stains and malformations and associated syndromes. Current Prob Dermatol 7: 65–108.

    Google Scholar 

  • Ezekowitz RAB, Mulliken JB, Folkman J (1992) Interferonalfa-2a therapy for life-threatening hemangiomas of infancy. N Engl J Med 326:1456–1463.

    PubMed  CAS  Google Scholar 

  • Ferrara N, Gerber HP, Le Couter J (2003) The biology of VEGF and its receptors. Nat Med 9: 669–676.

    Article  PubMed  CAS  Google Scholar 

  • Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 24: 816–818.

    Google Scholar 

  • Geller JD, Topper SF, Hashimoto K (1991) Diffuse neonatal hemangiomatosis: a new constellation of findings. J Am Acad Dermatol 24: 816–818.

    Article  PubMed  CAS  Google Scholar 

  • Goh WHS, Lo R (1993) A new 3C syndrome: cerebellar hypoplasia, cavernous hemangioma and coarctation of the aorta. Develop Med Child Neurol 35: 637–641.

    Article  PubMed  CAS  Google Scholar 

  • Goldberg NS, Hevert AA, Sterly NB (1986) Sacral hemangiomas and multiple congenital abnormalities. Arch Dermatol 122: 684–687.

    Article  PubMed  CAS  Google Scholar 

  • Gorlin RJ, Kantaputra P, Aughton DJ Mulliken JB (1994) Marked female predilection in some syndromes associated with facial hemangiomas. Am J Med Genet 52: 130–135.

    Article  PubMed  CAS  Google Scholar 

  • Grosso S, De Cosmo L, Bonifazi E, Galluzzi P, Farnetani MA, Loffredo P, Anichini C, Berardi R, Morgese G, Balestri P (2004) Facial hemangioma and malformation of the cortical development: a bradening of the PHACE spectrum or a new entity? Am J Med Genet 124A: 152–153.

    Article  Google Scholar 

  • Guian-Almeida ML, Richieri-Costa A, Saavedra D, Cohen Jr MM (1996) Cerebro-facio-thoracic syndrome. Am J Med Genet 61:152–153.

    Article  Google Scholar 

  • Hand JL, Frieden IJ (2002) Vascular birthmarks in infancy: resolving neurologic confusion. Am J Med Genet 108: 257–264.

    Article  PubMed  Google Scholar 

  • Haque KN (1984) Isolated asternia: an idependent entity. Clin Genet 25: 362–365.

    Article  PubMed  CAS  Google Scholar 

  • Hasan Q, Tan ST, Gush J, Davis PF (2001) Altered mitochondrial cytochrome b gene expression during the regression of hemangioma. Plast Reconstr Surg 108:1477–1478.

    Article  Google Scholar 

  • Hersh JH, Waterfill D, Rutledge J, Harrod MJE, O’Sheal SF, Verdi G, Martinez S, Weisskopf B (1985) Sternal malformation/vascular dysplasia association. Am J Med Genet 21:177–186.

    Article  PubMed  CAS  Google Scholar 

  • Heyer GL, Millar WS, Ghatan S, Gorzon MC (2006) The neurologic aspects of PHACE: case report and review of the literature. Pediatr Neural 35: 419–424

    Article  Google Scholar 

  • Holden KR, Alexander F (1970) Diffuse neonatal hemangiomatosis. Pediatrics 46: 411–421.

    PubMed  CAS  Google Scholar 

  • Holder N, Klein R (1999) Eph receptors and ephrins: effectors of morphogenesis. Development 126: 2034–2044.

    Google Scholar 

  • Honey M, Lincoln JCR, Osborne MP, de Bono DP (1975) Coarctation of aorta with right aortic arch. (Case 2) Brit Heart J 37: 937–945.

    Article  PubMed  CAS  Google Scholar 

  • Holtzman RN, Brisson PM, Pearl RE, Gruber ML (1999) Lobular capillary hemangioma of the cauda equina. Case report. J Neurosurg 90 (Suppl Spine 2): 2:307–311.

    Google Scholar 

  • Huq AHMM, Chugani DC, Hukku B, Serajee FJ (2002) Evidence of somatic mosaicism in Sturge-Weber syndrome. Neurology 59: 780–782.

    PubMed  Google Scholar 

  • Igarashi M, Uchida H, Kajaii T (1985) Supraumbilical midabdominal raphè and facial cavernous hemangiomas. Clin Genet 27:196–198.

    Article  PubMed  CAS  Google Scholar 

  • Kaplan P, Hollenberg RD, Fraser FC (1976) A spinal arteriovenous malformation with hereditary cutaneous hemangiomas. Am J Dis Child 130:1329–1333.

    PubMed  CAS  Google Scholar 

  • Kishnani P, Lafolla AK, McConkie-Rossell A, Van Hove JLK, Kanter RJ, Kahler SG (1995) Hemangioma, supraumbilical midline raphè, and coarctation of the aorta with a right aortic arch. Single causal entity. Am J Med Genet 59: 44–48.

    Article  PubMed  CAS  Google Scholar 

  • Lawson ND, Scheer N, Phan VN, Kim CH, Chitnis AB, Campos-Ortega JA, Weinstein BM (2001) Notch signalling is required for arterial-venous differentiation during embryonic vascular development. Development 128: 3675–3683.

    PubMed  CAS  Google Scholar 

  • Lawson ND, Vogel AM, Weinstein BM (2002) Sonic hedgehog and vascular endothelial growth factor act upstream of the Notch pathway during arterial endothelial differentiation. Dev Cell 3:127–136.

    Article  PubMed  CAS  Google Scholar 

  • Mall FP (1912) Determination of the age of embryos and fetuses. In: Kebel VI, Mall FP (eds.) Manual of Human Embryology. Philadelphia, pp. 180–201.

    Google Scholar 

  • Maramattom BV, Cohen-Gadol AA, Vijdicks EFM, Kallmes D (2005) Segmental cutaneous hemangioma and spinal arteriovenous malformation (Cobb syndrome). Case report and historical perspective. J Neurosurg Spine 3: 249–252.

    Article  PubMed  Google Scholar 

  • Margileth AM, Museles M (1965) Cutaneous hemangiomas in children. Diagnosis and conservative management. JAMA 194:135–138.

    Article  Google Scholar 

  • Matsui T, Ono T, Kito M, Yoshioka S, Ikeda T (1997) Extensive facial strawberry mark associated with cerebellar hypoplasia and vascular abnormalities. J Dermatol 24:113–116.

    PubMed  CAS  Google Scholar 

  • Mercer RD, Rothner AD, Cook SA (1978) The Cobb syndrome: association with hereditary cutaneous hemangiomas. Cleve Clin Q 45:237–240.

    PubMed  CAS  Google Scholar 

  • Metry DW, Dowd CF, Barkovich AJ, Frieden IJ (2001) The many faces of PHACE syndrome. J Pediatr 139: 117–123.

    Article  PubMed  CAS  Google Scholar 

  • Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Heyer G, Frieden IJ (2006) A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 140: 975–986.

    PubMed  CAS  Google Scholar 

  • Metry DW, Siegel DH, Cordisco MR, Pope E, Prendiville J, Drolet BA, Horii KA, Stein SL, Frieden IJ (2008) A comparison of disease severity among affected male versus female patients with PHACE syndrome. J Am Acad Dermatol 58: 81–87.

    Article  PubMed  Google Scholar 

  • Miyatake S, Kikuchi H, Yamagata S, Nagata I, Minami S, Asato R (1996) Cobb’s syndrome and its treatment with embolization. Neurosurgery 38: 558–562.

    Article  Google Scholar 

  • Mizuno Y, Kurokawa T, Numaguchi Y, Goya M (1982) Facial hemangioma with cerebro-vascular anomalies and cerebellar hypoplasia. Brain Dev 4: 373–378.

    Google Scholar 

  • Mohammadi M, Mohebbi MR, Holden KR (2004) Facial hemangioma and associated malformations: a case report. Neuropediatrics 35:194–197.

    Article  PubMed  CAS  Google Scholar 

  • Mulliken JB (1992) A biologic approach to cutaneous vascular anomalies. Pediatr Dermatol 9: 356–357.

    Article  PubMed  CAS  Google Scholar 

  • Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plastic Reconstr Surg 69: 412–422.

    Article  CAS  Google Scholar 

  • Murotani K, Hiramoto M (1985) Agenesis of the internal carotid artery with a large hemangioma of the tongue. Neuroradiology 27: 357–359.

    Article  PubMed  CAS  Google Scholar 

  • Myers C, Charboneau A, Boudreau N (2000) Homeobox B3 promotes capillary morphogenesis and angiogenesis. J Cell Biol 148: 343–351.

    Article  PubMed  CAS  Google Scholar 

  • Morwood C, Kriyda S (2007) Cobb Syndrome. e-medicine from the web. http://www.emedicine.com/derm/ topic769.html

    Google Scholar 

  • Padget DH (1948) The development of the cranial arteries in the human embryo. Contrib Embryol 32: 205–262.

    Google Scholar 

  • Pascual-Castroviejo I (1978) Vascular and extracran intracranial malformations associated with external capillary hemangiomas. Neuroradiology 16: 82–84.

    Article  PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I (1985) The association of extracranial and intracranial vascular malformations in children. Can J Neurol Sci 12:139–148.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I (1993) New 3C syndrome (letter) Dev Med Child Neurol 35:1026.

    Article  PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I (2004) Cutaneous hemangiomas: vascular anomaly complex. In: Roach ES, Miller VS (eds.) Neurocutaneous Disorders. Cambridge: Cambridge University Press, pp. 172–178.

    Google Scholar 

  • Pascual-Castroviejo I, Santolaya JM, Lopez Martìn V, Rodriguez-Costa T, Tendero A, Mulas F (1975) Cerebro-facio-thoracic dysplasia: report of three cases. Dev Med Child Neurol 17: 343–351.

    Article  PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Velez J, Pascual-Pascual SI, Roche MC, Villarejo F (1991) Dandy-Walker malformation: analysis of 38 cases. Childs Nerv Syst 7: 88–97.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Viafio J, Pascual-Pascual SI, Martinez V (1995) Facial hemangioma, agenesis of internal carotid artery and cerebral cortex dysplasia: case report. Neuroradiology 37: 693–695.

    Article  Google Scholar 

  • Pascual-Castroviejo I, Viaño J, Moreno F, Palencia R, Martinez-Fernandez V, Pascual-Pascual SI (1996) Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: A complex neurocutaneous syndrome. Am J Neuroradiol 17: 461–471.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Fernández-Cuadrado J, Cortès P, De la Flor-Crespo M, Pascual-Pascual SI (2002) Hemangioma cutáneo asociado a hemangioma hepático y a neurofibromatosis tipo 1 (NF1). Rev Neurol 34: 652–654.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Pascual-Pascual SI, Rafia S, Viaño J (2002a) Hemangiomas y malformaciones vasculares cutaneas e intracraneales (Sindrome de Pascual-Castroviejo tipo II). Presentatión de un caso. Rev Neurol 35: 1034–1036.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Frutos R, Viaño J, Pascual-Pascual SI, Gonzalez P (2002b) Cobb sindrome: case report. J Child Neurol 17: 847–849.

    Article  PubMed  Google Scholar 

  • Pascual-Castroviejo I, Viaño J, Pascual-Pascual SI, Martinez V (2003) Do cutaneous hemangiomas and internal vascular anomalies follow the same evolution? Neurology 61: 343–351.

    Google Scholar 

  • Pascual-Castroviejo I, Pascual-Pascual SI, Moreno F, Viaño J, Martinez V (2003a) Anomalias vasculares ex-tracraneales e intracraneales y nevus de Ota en la lies. J familia. Neurologìa 18: 102–106.

    PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Pascual-Pascual SI, Garcia-Guereta L, Goded F (2005) Cutaneous hemangioma in chest and internal vascular anomalies. J Pediatr Neurol 3: 103–106.

    Google Scholar 

  • Persky MS (1986) Congenital vascular lesions of the head and neck. Laryngoscope 96:1002–1015.

    Article  PubMed  CAS  Google Scholar 

  • Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F (1992) Cerebro-facio-thoracic dysplasia: a new family. J Med Genet 29: 497–499.

    PubMed  CAS  Google Scholar 

  • Poetke M, Frommeld T, Berlien HP (2002) PHACES syndrome: new views on diagnostic criteria. Eur J Pediatr surg 39: 99–103.

    Google Scholar 

  • Prensky AL, Gado M (1973) Angiographic resolution of a neonatal intracranial cavernous hemangioma coincident with steroid therapy. Case report. J Neurosurg 39: 99–103.

    Article  PubMed  CAS  Google Scholar 

  • Raas-Rothschild A, Nir A, Gillis R, Rein AJJ (2000) Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphè, and hemangiomatosis: report and review. Am J Med Genet 90: 243–245.

    Article  PubMed  CAS  Google Scholar 

  • Reese V, Frieden IJ, Palier AS, Esterly NB, Ferriero D, Levy ML, Lucky AW, Gellis SE, Siegfried EC (1993) Associaton of facial hemangiomas with Dandy-Walker and other posterior fossa malformations. J Pediatr 122: 379–384.

    Article  PubMed  CAS  Google Scholar 

  • Risau W (1997) Mechanisms of angiogenesis. Nature 386: 671–674.

    Article  PubMed  CAS  Google Scholar 

  • Rossi A, Bava GL, Biancheri R, Tortori-Donati P (2001) Posterior fossa and arterial abnormalities in patients with capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome. Neuroradiology 43: 934–940.

    Article  PubMed  CAS  Google Scholar 

  • Rufo-Campos M, Riveros-Huckstadt P, Rodriguez-Criado G, Hernandez-Soto R (2004) Another case of cerebrofacio-thoracic dysplasia (Pascual-Castroviejo syndrome). Brain Dev 26: 209–212.

    Article  PubMed  Google Scholar 

  • Schieken LS, Brenner JI, Baker KR, Ringel RE, Pacìfico A (1987) 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: 202–204.

    Article  PubMed  CAS  Google Scholar 

  • Schneeweis A, Blieden LC, Shem-Tov A, Motro M, Feigel A, Neufeld HN (1982) Coarctation of the aorta with congenital hemangioma of the face and neck and aneurysm or dilatation of subclavian or innominate artery: a new syndrome? Chest 82:186–187.

    Article  Google Scholar 

  • Slavotinek AM, Dubovsky E, Dietz HC, Lacbawan F (2002) Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. Am J Med Genet 110: 283–288.

    Article  PubMed  Google Scholar 

  • Soeda A, Sakai N, Iihara K, Nagata I (2003) Cobb syndrome in an infant: treatment with endovascular embolization and corticosteroid therapy: case report. Neurosurgery 52: 711–715.

    Article  PubMed  Google Scholar 

  • Stigmar G, Crawford JS, Ward CM, Thomson HG (1978) Ophthalmic sequelae of infantile hemangiomas of the eyelids and orbit. Am J Ophthalmol 85: 806–813.

    PubMed  CAS  Google Scholar 

  • Stockman A, Boralevi F, Taieb A, Leaute-Labreze C (2007) SACRAL syndrome: spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization. Dermatology 214: 40–45.

    Article  PubMed  Google Scholar 

  • Streeter GL (1918) The development alterations in the vascular system of the brain of human embryo. Contrib Embryol 8: 5–38.

    Google Scholar 

  • Studer M, Gavalas A, Marshall H, Ariza-McNaughton L, Rijili FM, Chambon P, Krumlauf R (1998) Genetic interactions between Hox A1 and Hox B1 reveal new roles in regulation of early hindbrain patterning. Development 125:1025–1036.

    PubMed  CAS  Google Scholar 

  • Takahashi K, Mulliken JB, Kozakewich HPW, Rogers RA, Folkman J, Ezekowitz RAB (1994) Cellular markes that distinguish the phases of hemangioma during infancy and childhood. J Clin Invest 93: 2357–2364.

    Article  PubMed  CAS  Google Scholar 

  • Tanner JL, Dechert MP, Frieden IJ (1998) Growing up with a facial hemangioma: parent and child coping and adaptation. Pediatrics 101: 446–452.

    Article  PubMed  CAS  Google Scholar 

  • Tasnadi G (1993) Epidemiology and etiology of congenital vascular malformations. Sem Vascul Surg 6: 200–203.

    CAS  Google Scholar 

  • Taveras JM (1969) Multiple progressive intracranial arterial occlusions: a syndrome of children and young adults. Am J Roentgenol Rad Ther Nucl Med 106: 235–268.

    CAS  Google Scholar 

  • Torres-Mohedas J, Verdú A, Vidal B, Jadraque R (2001) Presentatión conjunta de hemangioma facial, malformación de fosa posterior e hipoplasia carótido-vertebral (sindrome de Pascual-Castroviejo II): aportación de dos nuevos casos. Rev Neurol 32: 50–54.

    PubMed  CAS  Google Scholar 

  • Tortori-Donati P, Fondelli MP, Rossi A, Bava GL (1999) Intracranial contrast enhancing masses in infants with capillary hemangioma of the head and neck: intracranial capillary haemangioma? Neuroradiology 41: 369–375.

    Article  PubMed  CAS  Google Scholar 

  • Vaillant L, Lorette G, Chantepie A, Marchand M, Alison D, Vaillant MC et al. (1988) Multiple cutaneous hemangiomas and coarctation of the aorta with right aortic arch. Pediatrics 81: 707–710.

    PubMed  CAS  Google Scholar 

  • Walter JW, Blei F, Anderson JL, Orlow SJ, Speer MC, Marchuk DA (1999) Genetic mapping of a novel familial form of infantile hemangioma. Am J Med Genet 82: 77–83.

    Article  PubMed  CAS  Google Scholar 

  • Walter JW, Morth PE, Werner M, Mizonacki A, Blei F, Walker JWT, Reinisch JF, Marchuk DA (2002) Somatic mutation of Vascular endothelial growth factor receptors in furverile hemangioma. Genes Chromosomes Cancer 33: 295–303.

    Article  PubMed  CAS  Google Scholar 

  • Wang HU, Chen ZF, Anderson DJ (1998) Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor eph-B4. Cell 93: 741–753.

    Article  PubMed  CAS  Google Scholar 

  • Watson WL, McCarthy WD (1940) Blood and lymph vessel tumors. A report of 1056 cases. Surg Gynecol Obstet 71: 569–588.

    Google Scholar 

  • White CW (1990) Treatment of hemangiomatosis with recombinant interferon alfa-2a. Sem Hematol 27: 15–22.

    CAS  Google Scholar 

  • Wright TL, Bresnan MJ (1976) Radiation-induced cerebrovascular disease in children. Neurology 26: 540–543.

    PubMed  CAS  Google Scholar 

  • Zhong TP, Childs S, Leu JP, Fishman MC (2001) Gridlock signalling pathway fashions the first embryonic artery. Nature 414: 216–220.

    Article  PubMed  CAS  Google Scholar 

  • Ziyeh S, Shumacher M, Strecker R, Rössler J, Hochmuth A, Klisch J (2003) Head and neck vascular malformations: time-resolved MR proyection angiography. Neuroradiology 45: 681–686.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Paediatric Neurology Service, University Hospital La Paz, University of Madrid, Paseo de la Castellana, 261, 28046, Madrid, Spain

    Ignacio Pascual-Castroviejo MD

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  1. Ignacio Pascual-Castroviejo MD
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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© 2008 Springer-Verlag/Wien

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Pascual-Castroviejo, I. (2008). Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_2

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_2

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