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Vascular Malformations and Tumours

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Abstract

Vascular tumours and malformations form a heterogeneous group of disorders, complex nomenclature and multiple classification systems. In this chapter we outline the different clinical presentations, epidemiology and pathogenesis of this diverse group of pathologies.

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References

  1. Nosher JL, Murillo PG, Liszewski M, et al. Vascular anomalies: a pictorial review of nomenclature, diagnosis and treatment. World J Radiol. 2014;28:677–92.

    Article  Google Scholar 

  2. Enjolras O, Mulliken JB. Vascular tumors and vascular malformations (new issues). Adv Dermatol. 1998;12:375.

    Google Scholar 

  3. ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies. Available at “issva.org/classification”. Accessed [01/09/18].

    Google Scholar 

  4. Kilcline C, Frieden IJ. Infantile hemangiomas: how common are they? A systematic review of the medical literature. Pediatr Dermatol. 2008;25(2):168–73.

    Article  PubMed  Google Scholar 

  5. Drolet BA, Swanson EA, Frieden IJ, Hemangioma Investigator Group. Infantile hemangiomas: an emerging health issue linked to an increased rate of low birth weight infants. J Pediatr. 2008;153(5):712–5, 5 e1.

    Article  PubMed  Google Scholar 

  6. Hoornweg MJ, Smeulders MJ, Ubbink DT, van der Horst CM. The prevalence and risk factors of infantile haemangiomas: a case-control study in the Dutch population. Paediatr Perinat Epidemiol. 2012;26(2):156–62.

    Article  PubMed  Google Scholar 

  7. Tal R, Dotan M, Lorber A. Approach to haemangiomatosis causing congestive heart failure. Acta Paediatr. 2016;105:600.

    Article  CAS  PubMed  Google Scholar 

  8. Vradenborg AD, Janmohammed SR, de Laat PCJ, Madern GC, Oranje AP. Multiple cutaneous infantile haemangioma and the risk of internal hemangioma. Practical paediatric dermatology. Cham: Springer; 2016.

    Google Scholar 

  9. Finn MC, Glowacki J, Mulliken JB. Congenital vascular lesions: clinical application of a new classification. J Pediatr Surg. 1983;18:894–900.

    Article  CAS  PubMed  Google Scholar 

  10. Bauland CG, Lüning TH, Smit JM, et al. Untreated haemangiomas: growth patterns and residual lesions. Plast Reconstr Surg. 2011;127:1643.

    Article  CAS  PubMed  Google Scholar 

  11. Ronchese F. The spontaneous involution of cutaneous vascular tumours. Am J Surg. 1953;86(4):376–86.

    Article  CAS  PubMed  Google Scholar 

  12. North PE, Waner M, Mizeracki A, Mihm MC Jr. GLUT1: a newly discovered immunohistochemical marker for juvenile hemangiomas. Hum Pathol. 2000;31(1):11–22.

    Article  CAS  PubMed  Google Scholar 

  13. Léauté-Labrèze C, Prey S, Ezzedine K. Infantile haemangioma: part II. Risks, complications and treatment. J Eur Acad Dermatol Venereol. 2011;25:1254–60.

    Article  PubMed  Google Scholar 

  14. Novosibirsk M, Baselga E, Beltran S, et al. Interventions for infantile haemangiomas of the skin. Cochrane Database Syst Rev. 2018;(4):CD006545.

    Google Scholar 

  15. Coulie J, Coyette M, Moniotte S, Bataille AC, Boon LM. Has propranolol eradicated the need for surgery in the management of infantile hemangioma? Plast Reconstr Surg. 2015;136(4 Suppl):154.

    Article  Google Scholar 

  16. Kelly M. Kasabach-merritt phenomenon. Pediatr Clin N Am. 2010;57:1085–9.

    Article  Google Scholar 

  17. Happle R. Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol. 2015;29:2295–305.

    Article  CAS  PubMed  Google Scholar 

  18. Bioxeda P, de Misa RF, Arrazola JM, Perez B, Harto A, Ledo A. Facial angioma and the Sturge-Weber syndrome: a study of 121 cases. Med Clin (Barc). 1993;101:1–4.

    CAS  Google Scholar 

  19. Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004;30(5):303–10.

    Article  PubMed  Google Scholar 

  20. Sharan S, Swamy B, Taranath DA, et al. Port-wine vascular malformations and glaucoma risk in Sturgeon-Weber syndrome. J AAPOS. 2009;13(4):374–8.

    Article  PubMed  Google Scholar 

  21. Praticò A, et al. Megalencephaly capillary malformation syndrome. J Pediatr Neurol. 2018. https://doi.org/10.1055/s-0038-1667010.

    Article  Google Scholar 

  22. Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP. Verrucous hemangioma revisited. Pediatr Dermatol. 2006;23(3):208–15.

    Article  PubMed  Google Scholar 

  23. Rozas-Muñoz E, Frieden IJ, Roé E, Puig L, Baselga E. Vascular stains: proposal for a clinical classification to improve diagnosis and management. Pediatr Dermatol. 2016;33(6):570–84.

    Article  PubMed  Google Scholar 

  24. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Kjeldsen AD, et al. Diagnostic criteria for hereditary hemorrhagic telan- giectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91:65–6.

    Article  Google Scholar 

  25. Clodius L. Surgery for the facial port wine stain: technique and results. Ann Plast Surg. 1986;16(6):457–71.

    Article  CAS  PubMed  Google Scholar 

  26. Faurschou A, Olesen AB, Leonardi-Bee J, et al. Lasers or light sources for treating portwine stains. Cochrane Database Syst Rev. 2011;(11):CD007152.

    Google Scholar 

  27. Enjolras O. Classification and management of the various superficial vascular anomalies: hemangioma and vascular malformation. J Dermatol. 1997;24:701–10.

    Article  CAS  PubMed  Google Scholar 

  28. Elluru RG, Balakrishnan K, Padua HM. Lymphatic malformations: diagnosis and management. Semin Pediatr Surg. 2014;23(4):178–85. WB Saunders.

    Article  PubMed  Google Scholar 

  29. Tasnadi G. Epidemiology and etiology of congenital vascular malformations. Semin Vasc Surg. 1993;6(4):200–3.

    CAS  PubMed  Google Scholar 

  30. de Serres LM, Sie KC, Richardson MA. Lymphatic malformations of the head and neck. A proposal for staging. Arch Otolaryngol Head Neck Surg. 1995;121(5):577–82.

    Article  PubMed  Google Scholar 

  31. Partovi S, Vidal L, Nakamoto D, Lu Z, Buethe J, Coffey M, Patel I. Lymphatic malformation treatment in adult and pediatric populations using real-time MRI guided percutaneous sclerotherapy. J Vasc Interv Radiol. 2016;27(3):S221–2.

    Article  Google Scholar 

  32. Koh LH, Tan HK. The successful use of bipolar radiofrequency ablation (coblation) in treatment of a lymphatic malformation affecting the upper airway. Int J Otorhinolaryngol Head Neck Surg. 2016;2(4):267–70.

    Article  Google Scholar 

  33. Mirza B, Ijaz L, Saleem M, et al. Cystic hygroma: an overview. J Cutan Aesthet Surg. 2010;3:139–44.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Fliegelman LJ, Friedland D, Brandwein M, Rothschild M. Lymphatic malformation: predictive factors for recurrence. Otolaryngol Head Neck Surg. 2000;123(6):706–10.

    Article  CAS  PubMed  Google Scholar 

  35. Maclellan RA, Goss JA, Greene AK. Vascular malformation enlargement during menopause. J Craniofac Surg. 2018;29(5):1271–2.

    PubMed  Google Scholar 

  36. Dompmartin A, Vikkula M, Boon LM. Venous malformation: update on aetiopathogenesis, diagnosis and management. Phlebology. 2010;25:224–35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Politi M, Barbera L, Roth C, Papanagiotou P. Diagnosis and treatment of vascular malformations. Hell J Radiol. 2018;3(3):41–53.

    Google Scholar 

  38. Nguyen JT, Koerper MA, Hess CP, Dowd CF, Hoffman WY, Dickman M, Frieden IJ. Aspirin therapy in venous malformation: a retrospective cohort study of benefits, side effects, and patient experiences. Pediatr Dermatol. 2014;31(5):556–60.

    Article  PubMed  Google Scholar 

  39. Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR. Vascular malformations revisited. Vasa. 2015;44(1):5–22.

    Article  PubMed  Google Scholar 

  40. Wilkins RH. Natural history of intracranial vascular malformations: a review. Neurosurgery. 1985;16(3):421–30.

    Article  CAS  PubMed  Google Scholar 

  41. Jackson IT, Keskin M, Yavuzer R, Kelly CP. Compartmentalization of massive vascular malformations. Plast Reconstr Surg. 2005;115(1):10–21.

    CAS  PubMed  Google Scholar 

  42. Allen LS, Mulliken JB, Zurakowski D, Fishman S, Greene AK. Extracranial arteriovenous malformations: natural progression and recurrence after treatment. Plast Reconstr Surg. 2010;125:1185–94.

    Article  CAS  Google Scholar 

  43. Kohout MP, Hansen M, Pribaz JJ, Mulliken JB. Arteriovenous malformations of the head and neck: natural history and management. Plast Reconstr Surg. 1998;102:643–54.

    Article  CAS  PubMed  Google Scholar 

  44. Lee BB, Lardeo J, Neville R. Arterio-venous malformation: how much do we know? Phlebology. 2009;24:193–200.

    Article  CAS  PubMed  Google Scholar 

  45. Lam K, Pillai A, Reddick M. Peripheral arteriovenous malformations: classification and endovascular treatment. Appl Radiol. 2017;46:15–21.

    Google Scholar 

  46. Nassiri N, Cirillo-Penn NC, Thomas J. Evaluation and management of congenital peripheral arteriovenous malformations. J Vasc Surg. 2015;62(6):1667–76.

    Article  PubMed  Google Scholar 

  47. Willinsky RA, Lasjaunias P, Terbrugge K, Burrows P. Multiple cerebral arteriovenous malformations (AVMs). Neuroradiology. 1990;32(3):207–10.

    Article  CAS  PubMed  Google Scholar 

  48. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics. 2002;109(1):e12.

    Article  PubMed  Google Scholar 

  49. Pasqualin A, Vivenza C, Rosta L, Scienza R, Da Pian R, Colangeli M. Spontaneous disappearance of intracranial arterio-venous malformations. Acta Neurochir. 1985;76(1–2):50–7.

    Article  CAS  PubMed  Google Scholar 

  50. Simon CH, Chan MS, Lam JM, Tam PH, Poon WS. Complete obliteration of intracranial arteriovenous malformation with endovascular cyanoacrylate embolization: initial success and rate of permanent cure. Am J Neuroradiol. 2004;25(7):1139–43.

    Google Scholar 

  51. Flickinger JC, Kondziolka D, Lunsford LD, Pollock BE, Yamamoto M, Gorman DA, Schomberg PJ, Sneed P, Larson D, Smith V, McDermott MW. A multi-institutional analysis of complication outcomes after arteriovenous malformation radiosurgery. Int J Radiat Oncol Biol Phys. 1999;44(1):67–74.

    Article  CAS  PubMed  Google Scholar 

  52. Harrigan MR, Deveikis JP. Dural arteriovenous fistulas. In: Handbook of cerebrovascular disease and neurointerventional technique. 2013. p. 603–25.

    Google Scholar 

  53. Bhattacharya JJ, Thammaroj J. Vein of Galen malformations. J Neurol Neurosurg Psychiatry. 2003;74(Suppl 1):i42–4.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005;76(1):42–51.

    Article  CAS  PubMed  Google Scholar 

  55. Ruzevick J, White-Dzuro G, Levitt M, Kim L, Ferreira M. Intracranial arteriovenous malformations. In: Evidence-based management of head and neck vascular anomalies. Cham: Springer; 2018. p. 179–191.

    Chapter  Google Scholar 

  56. Manjila S, Bazil T, Thomas M, Mani S, Kay M, Udayasankar U. A review of extraaxial developmental venous anomalies of the brain involving dural venous flow or sinuses: persistent embryonic sinuses, sinus pericranii, venous varices or aneurysmal malformations, and enlarged emissary veins. Neurosurg Focus. 2018;45(1):E9.

    Article  PubMed  Google Scholar 

  57. Zarrabeitia R, Aurrecoechea E, Fariñas-Alvarez C, Fontalba A, Zarauza J, Ojeda L, Parra JA. In: Hereditary haemorrhagic telangiectasia pathological nailfold capillaroscopy is associated with pulmonary arteriovenous malformations.

    Google Scholar 

  58. Hornig C, Barleon B, Ahmad S, Vuorela P, Ahmed A, Weich HA. Release and complex formation of soluble VEGFR-1 from endothelial cells and biological fluids. Lab Investig. 2000;80(4):443–54.

    Article  CAS  PubMed  Google Scholar 

  59. Banks RE, Forbes MA, Searles J, et al. Evidence for the existence of a novel pregnancy-associated soluble variant of the vascular endothelial growth factor receptor, Flt-1. Mol Hum Reprod. 1998;4(4):377–86.

    Article  CAS  PubMed  Google Scholar 

  60. Bischoff J. Progenitor cells in infantile hemangioma. J Craniofac Surg. 2009;20(Suppl 1):695–7.

    Article  PubMed  PubMed Central  Google Scholar 

  61. Kleinman ME, Greives MR, Churgin SS, et al. Hypoxia-induced mediators of stem/progenitor cell trafficking are increased in children with hemangioma. Arterioscler Thromb Vasc Biol. 2007;27(12):2664–70.

    Article  CAS  PubMed  Google Scholar 

  62. Chang CJ, Yu JS, Nelson JS. Confocal microscopy study of neurovascular distribution in facial port wine stains (capillary malformation). J Formos Med Assoc. 2008;107(7):559–66.

    Article  PubMed  Google Scholar 

  63. Smoller BR, Rosen S. Port-wine stains. A disease of altered neural modulation of blood vessels? Arch Dermatol. 1986;122(2):177–9.

    Article  CAS  PubMed  Google Scholar 

  64. Vural E, Ramakrishnan J, Cetin N, Buckmiller L, Suen JY, Fan CY. The expression of vascular endothelial growth factor and its receptors in port-wine stains. Otolaryngol Head Neck Surg. 2008;139(4):560–4.

    Article  PubMed  Google Scholar 

  65. Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, et al. Endothelial cells from capillary malformations are enriched for somatic GNAQ mutations. Plast Reconstr Surg. 2016;137(1):77e–82e.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Baluk P, Yao LC, Flores JC, Choi D, Hong YK, McDonald DM. Rapamycin reversal of VEGF-C–driven lymphatic anomalies in the respiratory tract. JCI Insight. 2017;2(16).

    Google Scholar 

  67. Boscolo E, Coma S, Luks VL, et al. AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis. 2015;18:151–62.

    Article  CAS  PubMed  Google Scholar 

  68. Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. 1994;3:1583–7.

    Article  CAS  PubMed  Google Scholar 

  69. Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995;32:197–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  70. Crist AM, Lee AR, Patel NR, Westhoff DE, Meadows SM. Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia. Angiogenesis. 2018:1–8.

    Google Scholar 

  71. Kofler NM, Cuervo H, Uh MK, Murtomäki A, Kitajewski J. Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations. Sci Rep. 2015;5:16449.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Murphy PA, Kim TN, Huang L, Nielsen CM, Lawton MT, Adams RH, Schaffer CB, Wang RA. Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels. Proc Natl Acad Sci. 2014;111(50):18007–12.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Regional Maxillofacial Unit, Queen Elizabeth University Hospital, Glasgow, UK

    David A. Koppel & Jaime Grant

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  1. David A. Koppel
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  2. Jaime Grant
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Correspondence to David A. Koppel .

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Editors and Affiliations

  1. Institute of Cardiovascular and Medical Science, University of Glasgow, Glasgow, UK

    Rhian M. Touyz

  2. Institute of Cardiovascular and Medical Science, University of Glasgow, Glasgow, UK

    Christian Delles

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Koppel, D.A., Grant, J. (2019). Vascular Malformations and Tumours. In: Touyz, R., Delles, C. (eds) Textbook of Vascular Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-16481-2_45

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  • DOI: https://doi.org/10.1007/978-3-030-16481-2_45

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