Abstract
Venous malformations (VMs) are congenital vascular malformations. They are very often misnamed and thus incorrectly managed. The aim of the present paper is to provide the reader with the most updated literature available and to offer a detailed description of each single aspect of this disease. In detail, the paper discusses the epidemiology, the embryological origins and the physiopathology of VMs. Then, the clinical features of sporadic, inherited and syndromic VMs are discussed. The instrumental diagnosis is presented, and the role of US, CT, MRI and phlebography is pointed out. Differential diagnoses with other vascular malformations and tumors are described. The clinical session ends with the staging of VMs relying on MRI and rheological features. All aspects of treatment are described: conservative measures, medical treatment, sclerotherapy, laser and surgery are thoroughly discussed. A section is reserved to bony VMs. Their clinical aspects and the appropriate treatment are presented.
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Colletti G, Deganello A. Cavernous hemangioma: a term to be canceled. Eur Arch Otorhinolaryngol. 2016. doi:10.1007/s00405-016-4324-7.
Vikkula M, Boon LM, Mulliken JB. Molecular genetics of vascular malformations. Matrix Biol. 2001;20(5):327–35.
Legiehn GM, Heran MKS. Venous malformations: classification, development, diagnosis, and interventional radiologic management. Radiol Clin N Am. 2008;46(3):545–97.
Luttun A, Carmeliet G, Carmeliet P. Vascular progenitors: from biology to treatment. Trends Cardiovasc Med. 2002;12(2):88–96.
Tille JC. Hereditary vascular anomalies: new insights into their pathogenesis. Arterioscler Thromb Vasc Biol. 2004;24(9):1578–90.
Risau W. Mechanisms of angiogenesis. Nature. 1997;386(6626):671–4.
Cohen MM Jr. Vascular update: morphogenesis, tumors, malformations, and molecular dimensions. Am J Med Genet. 2006;140(19):2013–38.
Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995;32(3):197–9.
Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol. 2004;140(8):971–6.
Vikkula M, Boon LM, Mulliken JB, Olsen BR. Molecular basis of vascular anomalies. Trends Cardiovasc Med. 1998;8(7):281–92.
Belov S. Classification, terminology and nosology of congenital vascular defects. Reinbek: Einhorn-Presse; 1989. p. 25–8.
Jackson IT, Carreño R, Potparic Z, Hussain K. Hemangiomas, vascular malformations, and lymphovenous malformations: classification and methods of treatment. Plast Reconstr Surg. 1993;91(7):1216–30.
Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D. Extensive pure venous malformations in the upper or lower limb: a review of 27 cases. J Am Acad Dermatol. 1997;36(2):219–25.
Dompmartin A, Acher A, Thibon P, Tourbach S, Hermans C, Deneys V, Pocock B, Lequerrec A, Labbé D, Barrellier M-T, Vanwijck R, Vikkula M, Boon LM. Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol. 2008;144(7):873–7.
Blatt J, McLean TW, Castellino SM, Burkhart CN. A review of contemporary options for medical management of hemangiomas, other vascular tumors, and vascular malformations. Pharmacol Ther. 2013;139(3):327–33.
Shirazi F, Cohen C, Fried L, Arbiser JL. Mammalian target of rapamycin (mTOR) is activated in cutaneous vascular malformations in vivo. Lymphat Res Biol. 2007;5(4):233–6.
Hammill AM, Wentzel M, Gupta A, Nelson S, Lucky A, Elluru R, Dasgupta R, Azizkhan RG, Adams DM. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatric Blood Cancer. 2011;57(6):1018–24.
Jabłońska-Trypuć A, Matejczyk M, Rosochacki S. Matrix metalloproteinases (MMPs), the main extracellular matrix (ECM) enzymes in collagen degradation, as a target for anticancer drugs. J Enzyme Inhib Med Chem. 2016;31(sup1):177–83.
Rundhaug JE. Matrix metalloproteinases and angiogenesis. J Cell Mol Med. 2005;9(2):267–85.
Marler JJ. Increased expression of urinary matrix metalloproteinases parallels the extent and activity of vascular anomalies. Pediatrics. 2005;116(1):38–45.
Burrows PE, Mulliken JB, Fishman SJ, Klement GL, Folkman J. Pharmacological treatment of a diffuse arteriovenous malformation of the upper extremity in a child. J Craniofac Surg. 2009;20(1):597–602.
Colletti G, Dalmonte P, Moneghini L, Ferrari D, Allevi F. Adjuvant role of anti-angiogenic drugs in the management of head and neck arteriovenous malformations. Med Hypotheses. 2015;85(3):298–302.
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (‘glomangiomas’). Am J Hum Genet. 2002;70(4):866–74.
Oranje AP. Blue rubber bleb nevus syndrome. Pediatr Dermatol. 1986;3(4):304–10.
Colletti G, Frigerio A, Giovanditto F, Biglioli F, Chiapasco M, Grimmer JF. Surgical treatment of vascular malformations of the facial bones. J Oral Maxillofac Surg. 2014;72(7):1326.e1–18.
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(9):1583–7.
Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68(4):820–3.
Boon LM, Vikkula M. Multiple cutaneous and mucosal venous malformations. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2017.
Bean WB. Blue rubber-bleb nevi of the skin and gastrointestinal tract. In: Bean WB, editor. Vascular spiders and related lesions of the skin. Springfield: Charles C. Thomas; 1958. p. 178–85.
Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg. 2000;37(8):517–84.
Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics. 2012;129(4):e1080–4.
Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis. J Bone Joint Surg Am. 1955;37(5):985–1004.
Jackson JB. A singular case of aborbtion of bone (a boneless arm). Boston Med Surg J. 1838;18:368–9.
Ruggieri P, Montalti M, Angelini A, Alberghini M, Mercuri M. Gorham–Stout disease: the experience of the Rizzoli Institute and review of the literature. Skelet Radiol. 2011;40(11):1391–7.
Hirayama T, Sabokbar A, Itonaga I, Watt-Smith S, Athanasou NA. Cellular and humoral mechanisms of osteoclast formation and bone resorption in Gorham–Stout disease. J Pathol. 2001;195(5):624–30.
Nozaki T, Nosaka S, Miyazaki O, Makidono A, Yamamoto A, Niwa T, Tsutsumi Y, Aida N, Masaki H, Saida Y. Syndromes associated with vascular tumors and malformations: a pictorial review. Radiographics. 2013;33(1):175–95.
Maffucci A. Di un caso di encondroma ed angioma multiplo. Mov Med Chir Napoli. 1881;3:399–412.
Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011;43(12):1262–5.
Pansuriya TC, van Eijk R, d’Adamo P, van Ruler MAJH, Kuijjer ML, Oosting J, Cleton-Jansen A-M, van Oosterwijk JG, Verbeke SLJ, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom L-G, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JVMG. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011;43(12):1256–61.
Cai Y, Wang R, Chen X-M, Zhao Y-F, Sun Z-J, Zhao J-H. Maffucci syndrome with the spindle cell hemangiomas in the mucosa of the lower lip: a rare case report and literature review. J Cutan Pathol. 2013;40(7):661–6.
Verdegaal SHM, Bovée JVMG, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San-Julian M, Biau DJ, van der Geest ICM, Leithner A, Streitbürger A, Klenke FM, Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PCW, Brand R, Taminiau AHM. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist. 2011;16(12):1771–9.
Mazoyer E, Enjolras O, Laurian C, Houdart E, Drouet L. Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kasabach–Merritt syndrome. Clin Lab Haematol. 2002;24(4):243–51.
Lee BB, Bergan J, Gloviczki P, Laredo J, Loose DA, Mattassi R, Parsi K, Villavicencio JL, Zamboni P, International Union of Phlebology (IUP). Diagnosis and treatment of venous malformations. Consensus document of the International Union of Phlebology (IUP)-2009. Int Angiol. 2009;28(6):434–51.
Lee BB, Antignani PL, Baraldini V, Baumgartner I, Berlien P, Blei F, Carrafiello GP, Grantzow R, Ianniello A, Laredo J, Loose D, Lopez Gutierrez JC, Markovic J, Mattassi R, Parsi K, Rabe E, Roztocil K, Shortell C, Vaghi M. ISVI-IUA consensus document diagnostic guidelines of vascular anomalies: vascular malformations and hemangiomas. Int Angiol. 2015;34(4):333–74.
Trop I, Dubois J, Guibaud L, Grignon A, Patriquin H, McCuaig C, Garel LA. Soft-tissue venous malformations in pediatric and young adult patients: diagnosis with Doppler US. Radiology. 1999;212(3):841–5.
Paltiel HJ, Burrows PE, Kozakewich HP, Zurakowski D, Mulliken JB. Soft-tissue vascular anomalies: utility of US for diagnosis. Radiology. 2000;214(3):747–54.
Dubois J, Soulez G, Oliva VL, Berthiaume MJ, Lapierre C, Therasse E. Soft-tissue venous malformations in adult patients: imaging and therapeutic issues. Radiographics. 2001;21(6):1531.
Dubois J, Garel L, David M, Powell J. Vascular soft-tissue tumors in infancy: distinguishing features on Doppler sonography. AJR Am J Roentgenol. 2002;178(6):1541–5.
Lee B-B, Choe YH, Ahn JM, Do YS, Kim D-I, Huh SH, Byun HS. The new role of magnetic resonance imaging in the contemporary diagnosis of venous malformation: can it replace angiography? J Am Coll Surg. 2004;198(4):549–58.
Weiss I, Lipari BA, Meyer L, Berenstein A, Waner M. Current treatment of parotid hemangiomas. Laryngoscope. 2011;121(8):1642–50.
Baker LL, Dillon WP, Hieshima GB, Dowd CF, Frieden IJ. Hemangiomas and vascular malformations of the head and neck: MR characterization. AJNR Am J Neuroradiol. 1993;14(2):307–14.
Jarrett DY, Ali M, Chaudry G. Imaging of vascular anomalies. Dermatol Clin. 2013;31(2):251–66.
Eivazi B, Wiegand S, Negm H, Teymoortash A, Schulze S, Bien S, Werner JA. Orbital and periorbital vascular anomalies—an approach to diagnosis and therapeutic concepts. Acta Otolaryngol. 2010;130(8):942–51.
Gandolfo C, Krings T, Alvarez H, Ozanne A, Schaaf M, Baccin CE, Zhao W-Y, Lasjaunias P. Sinus pericranii: diagnostic and therapeutic considerations in 15 patients. Neuroradiology. 2007;49(6):505–14.
Akram H, Prezerakos G, Haliasos N, O’Donovan D, Low H. Sinus pericranii: an overview and literature review of a rare cranial venous anomaly (A review of the existing literature with case examples). Neurosurg Rev. 2011;35(1):15–26.
Jin YB, Lin XX, Chen H, Li W, Hu XJ, Ma G, Zhu L, Sun MH, Yang C, Wang W. Craniofacial venous malformations: magnetic resonance imaging features that predict treatment outcome. J Oral Maxillofac Surg. 2009;67(11):2388–96.
Goyal M, Causer PA, Armstrong D. Venous vascular malformations in pediatric patients: comparison of results of alcohol sclerotherapy with proposed MR imaging classification. Radiology. 2002;223(3):639–44.
Lee BB. Advanced management of congenital vascular malformations (CVM). Int Angiol. 2002;21(3):209–13.
Lee BB. New approaches to the treatment of congenital vascular malformations (CVMs)—a single centre experience. Eur J Vasc Endovasc Surg. 2005;30(2):184–97.
Buckmiller LM, Richter GT, Suen JY. Diagnosis and management of hemangiomas and vascular malformations of the head and neck. Oral Dis. 2010;16(5):405–18.
McRae MY, Adams S, Pereira J, Parsi K, Wargon O. Venous malformations: clinical course and management of vascular birthmark clinic cases. Aust J Dermatol. 2012;54(1):22–30.
Redondo P. The hidden face of venous malformations: a multidisciplinary therapeutic approach. Arch Dermatol. 2008;144(7):922–6.
Hein KD, Mulliken JB, Kozakewich HPW, Upton J, Burrows PE. Venous malformations of skeletal muscle. Plast Reconstr Surg. 2002;110(7):1625–35.
O’Donovan JC, Donaldson JS, Morello FP, Pensler JM, Vogelzang RL, Bauer B. Symptomatic hemangiomas and venous malformations in infants, children, and young adults: treatment with percutaneous injection of sodium tetradecyl sulfate. AJR Am J Roentgenol. 1997;169(3):723–9.
Cho KJ, Williams DM, Brady TM, Weiss CA, Forrest ME, Oke EJ, Griffin DJ. Transcatheter embolization with sodium tetradecyl sulfate. Experimental and clinical results. Radiology. 1984;153(1):95–9.
Govrin-Yehudain J, Moscona AR, Calderon N, Hirshowitz B. Treatment of hemangiomas by sclerosing agents: an experimental and clinical study. Ann Plast Surg. 1987;18(6):465–9.
Nachman RL, Silverstein R. Hypercoagulable states. Ann Intern Med. 1993;119(8):819–27.
Donnelly LF, Bisset GS, Adams DM. Marked acute tissue swelling following percutaneous sclerosis of low-flow vascular malformations: a predictor of both prolonged recovery and therapeutic effect. Pediatr Radiol. 2000;30(6):415–9.
Cabrera J, Garcia-Olmedo MA. Sclerosants in microfoam. A new approach in angiology. Int Angiol. 2001;20(4):322–9.
Shin BS, Do YS, Lee B-B, Kim D-I, Chung IS, Cho HS, Kim MH, Kim GS, Kim CS, Byun HS, Shin SW, Park KB. Multistage ethanol sclerotherapy of soft-tissue arteriovenous malformations: effect on pulmonary arterial pressure. Radiology. 2005;235(3):1072–7.
Tessari L, Cavezzi A, Frullini A. Preliminary experience with a new sclerosing foam in the treatment of varicose veins. Dermatol Surg. 2001;27(1):58–60.
Hou R, Guo J, Hu K, Yang Y, Wang L, Kong L, Liu G, Lei D. A clinical study of ultrasound-guided intralesional injection of bleomycin A5 on venous malformation in cervical-facial region in China. J Vasc Surg. 2010;51(4):940–5.
Berenguer B, Burrows PE, Zurakowski D, Mulliken JB. Sclerotherapy of craniofacial venous malformations: complications and results. Plast Reconstr Surg. 1999;104(1):1–11 (discussion 12–5).
Lee BB, Do YS, Byun HS, Choo IW, Kim DI, Huh SH. Advanced management of venous malformation with ethanol sclerotherapy: mid-term results. J Vasc Surg. 2003;37(3):533–8.
Burrows PE. Endovascular treatment of slow-flow vascular malformations. Tech Vasc Interv Radiol. 2013;16(1):12–21.
Siniluoto TM, Svendsen PA, Wikholm GM, Fogdestam I, Edström S. Percutaneous sclerotherapy of venous malformations of the head and neck using sodium tetradecyl sulphate (sotradecol). Scand J Plast Reconstr Surg Hand Surg. 1997;31(2):145–50.
Barranco-Pons R, Burrows PE, Landrigan-Ossar M, Trenor CC, Alomari AI. Gross hemoglobinuria and oliguria are common transient complications of sclerotherapy for venous malformations: review of 475 procedures. Am J Roentgenol. 2012;199(3):691–4.
Hammond B, Fairman RP, Monroe P, Glauser FL, Sugarman H, Davis D. The pulmonary hypertension of sclerosing agents is prevented by cyclooxygenase inhibitors. Am J Med Sci. 1985;290(3):98–101.
Allevi F, Rabbiosi D, Mandalà M, Colletti G. Paradoxical embolism following intralesional sclerotherapy for cervical venous malformation. BMJ Case Rep. 2014;2014. doi:10.1136/bcr-2014-206781.
Lindsey SF, Reiders B, Mechaber HF. Life-threatening pharyngeal edema after sclerotherapy of oral venous malformations in a patient with blue rubber bleb nevus syndrome. J Dermatol Case Rep. 2013;7(3):74–6.
Bekhor PS. Long-pulsed Nd:YAG laser treatment of venous lakes: report of a series of 34 cases. Dermatol Surg. 2006;32(9):1151–4.
Suen JY, Waner M. Treatment of oral cavity vascular malformations using the neodymium:YAG laser. Arch Otolaryngol Head Neck Surg. 1989;115(11):1329–33.
Scherer K, Waner M. Nd:YAG lasers (1,064 nm) in the treatment of venous malformations of the face and neck: challenges and benefits. Lasers Med Sci. 2007;22(2):119–26.
John HE, Phen HS, Mahaffey PJ. Treatment of venous lesions of the lips and perioral area with a long-pulsed Nd:YAG laser. Br J Oral Maxillofac Surg. 2016;54(4):376–8. doi:10.1016/j.bjoms.2015.06.014.
Frigerio A, Tan OT. Laser applications for benign oral lesions. Lasers Surg Med. 2015;47(8):643–50.
Miyazaki H, Ohshiro T, Watanabe H, Kakizaki H, Makiguchi T, Kim M, Negishi A, Yokoo S. Ultrasound-guided intralesional laser treatment of venous malformation in the oral cavity. Int J Oral Maxillofac Surg. 2013;42(2):281–7.
Simon F, Le Clerc N, Salvan D, Sauvaget E, Faucon B, Borsik M, Herman P, Bisdorff A. Diode endovascular laser treatment in venous malformations of the upper aerodigestive tract. J Craniomaxillofac Surg. 2016;44(5):533–7. doi:10.1016/j.jcms.2016.02.007.
Philipp C, Berlien HP, Waldschmidt J. Lasers in pediatric surgery: a review. J Clin Laser Med Surg. 1991;9(3):189–94.
Crockett DJ, Meier JD, Wilson KF, Grimmer JF. Treatment of oral cavity venous malformations with the Nd:YAG laser using the underwater technique. Otolaryngol Head Neck Surg. 2013;149(6):954–6.
Colletti G, Colombo V, Mattassi R, Frigerio A. Strangling technique to treat large cervicofacial venous malformations: a preliminary report. Head Neck. 2014;36(10):E94–8.
Wiegand S, Tiburtius J, Zimmermann AP, Güldner C, Eivazi B, Werner JA. Localization and treatment of lingual venous and arteriovenous malformations. Vasc Med. 2014;19(1):49–53.
Leung M, Leung L, Fung D, Poon W-L, Liu C, Chung K, Tang P, Tse S, Fan T-W, Chao N, Liu K. Management of the low-flow head and neck vascular malformations in children: the sclerotherapy protocol. Eur J Pediatr Surg. 2014;24(1):097–101.
Puig S, Aref H, Chigot V, Bonin B, Brunelle F. Classification of venous malformations in children and implications for sclerotherapy. Pediatr Radiol. 2003;33(2):99–103.
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Colletti, G., Ierardi, A.M. Understanding venous malformations of the head and neck: a comprehensive insight. Med Oncol 34, 42 (2017). https://doi.org/10.1007/s12032-017-0896-3
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DOI: https://doi.org/10.1007/s12032-017-0896-3