Syndromes associated with vascular tumors and malformations: A pictorial review

Radiographics

Volumn 33, Issue 1, 2013, Pages 175-195

  Nozaki, Taiki ^a,b   Nosaka, Shunsuke ^b   Miyazaki, Osamu ^b   Makidono, Akari ^a,b   Yamamoto, Asako ^c   Niwa, Tetsu ^d   Tsutsumi, Yoshiyuki ^b   Aida, Noriko ^e   Masaki, Hidekazu ^b   Saida, Yukihisa ^a  

^a ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c TEIKYO UNIVERSITY   (Japan)

^d TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLASSIFICATION; CONGENITAL BLOOD VESSEL MALFORMATION; DIAGNOSTIC IMAGING; FEMALE; HUMAN; MALE; PREGNANCY; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; SYNDROME; VASCULAR TUMOR;

DIAGNOSTIC IMAGING; FEMALE; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; VASCULAR MALFORMATIONS; VASCULAR NEOPLASMS;

EID: 84872512289     PISSN: 02715333     EISSN: 15271323     Source Type: Journal    
DOI: 10.1148/rg.331125052     Document Type: Article

References (75)

1. Cohen MM Jr. Vascular update: morphogenesis, tumors, malformations, and molecular dimensions. Am J Med Genet A 2006;140(19):2013-2038.
2. Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations: part II-associated syndromes. J Am Acad Dermatol 2007;56(4):541-564.
3. Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: part I-clinical diagnosis. J Am Acad Dermatol 2011;65(5):893-906 quiz 907-908.
4. Lobo-Mueller E, Amaral JG, Babyn PS, Wang Q, John P. Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children. Semin Musculoskelet Ra-diol 2009;13(3):255-276.
5. Dubois J, Alison M. Vascular anomalies: what a radiologist needs to know. Pediatr Radiol 2010;40(6): 895-905.
6. Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children: a clas-sifcation based on endothelial characteristics. Plast Reconstr Surg 1982;69(3):412-422.
7. Ernemann U, Kramer U, Miller S, et al. Current concepts in the classifcation, diagnosis and treatment of vascular anomalies. Eur J Radiol 2010;75 (1):2-11.
8. Hand JL, Frieden IJ. Vascular birthmarks of infancy: resolving nosologic confusion. Am J Med Genet 2002;108(4):257-264.
9. Chang M W. Updated classifcation of hemangio-mas and other vascular anomalies. Lymphat Res Biol 2003;1(4):259-265.
10. Krol A, MacArthur CJ. Congenital hemangiomas: rapidly involuting and noninvoluting congenital hemangiomas. Arch Facial Plast Surg 2005;7(5): 307-311.
11. Flors L, Leiva-Salinas C, Maged IM, et al. MR imaging of soft-tissue vascular malformations: diagnosis, classifcation, and therapy follow-up. RadioGraphics 2011;31(5):1321-1340 discussion 1340-1341.
12. Elsayes KM, Menias CO, Dillman JR, Platt JF, Willatt JM, Heiken JP. Vascular malformation and hemangiomatosis syndromes: spectrum of imaging manifestations. AJR Am J Roentgenol 2008;190(5): 1291-1299.
13. Ford EG, Stanley P, Tolo V, Woolley MM. Peripheral congenital arteriovenous fstulae: observe, operate, or obturate? J Pediatr Surg 1992;27(6):714-719.
14. White RI Jr, Pollak J, Persing J, Henderson KJ, Thomson JG, Burdge CM. Long-term outcome of embolotherapy and surgery for high-fow extremity arteriovenous malformations. J Vasc Interv Radiol 2000;11(10):1285-1295.
15. Cho SK, Do YS, Shin SW, et al. Arteriovenous malformations of the body and extremities: analysis of therapeutic outcomes and approaches according to a modifed angiographic classifcation. J Endo-vasc Ther 2006;13(4):527-538.
16. Legiehn GM, Heran MK. A step-by-step practical approach to imaging diagnosis and interventional radiologic therapy in vascular malformations. Se-min Intervent Radiol 2010;27(2):209-231.
17. Klippel M, Trenaunay P. Du naevus variqueux os-teo-hypertrophique. Arch Gen Med (Paris) 1900; 3:641.
18. Huang WJ, Creath CJ. Klippel-Trenaunay-Weber syndrome: literature review and case report. Pedi-atr Dent 1994;16(3):231-235.
19. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg 2008; 60(2):217-223.
20. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc 1998;73(1):28-36.
21. Berry SA, Peterson C, Mize W, et al. Klippel-Tre-naunay syndrome. Am J Med Genet 1998;79(4): 319-326.
22. Sturge WA. A case of partial epilepsy apparently due to a lesion of one of the vasomotor centers of the brain. BMJ 1879;1:704.
23. Weber FP. Right-sided hemi-hypotrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms. J Neurol Psycho-pathol 1922;3(10):134-139.
24. Comi AM. Presentation, diagnosis, pathophysiol-ogy, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 2011;17(4): 179-184.
25. Welty LD. Sturge-Weber syndrome: a case study. Neonatal Netw 2006;25(2):89-98.
26. Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol 2004;30 (5):303-310.
27. Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985;76(1):48-51.
28. Wasenko JJ, Rosenbloom SA, Duchesneau PM, Lanzieri CF, Weinstein MA. The Sturge-Weber syndrome: comparison of MR and CT characteristics. AJNR Am J Neuroradiol 1990;11(1):131-134.
29. Benedikt RA, Brown DC, Walker R, Ghaed VN, Mitchell M, Geyer CA. Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. AJNR Am J Neuroradiol 1993;14(2):409-415.
30. Bean WB. Vascular spiders and related lesions of the skin. Springfeld, Ill: Thomas, 1958.
31. Gascoyen M. Case of naevus involving the parotid gland and causing death from suffocation: naevi of the viscera. Trans Pathol Soc 1860;11:267.
32. Fernandes C, Silva A, Coelho A, Campos M, Pontes F. Blue rubber bleb naevus: case report and literature review. Eur J Gastroenterol Hepatol 1999;11(4):455-457.
33. Nahm WK, Moise S, Eichenfeld LF, et al. Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol 2004;50(5 suppl):S101-S106.
34. Wong CH, Tan YM, Chow WC, Tan PH, Wong WK. Blue rubber bleb nevus syndrome: a clinical spectrum with correlation between cutaneous and gastrointestinal manifestations. J Gastroenterol Hepatol 2003;18(8):1000-1002.
35. Kassarjian A, Fishman SJ, Fox VL, Burrows PE. Imaging characteristics of blue rubber bleb nevus syndrome. AJR Am J Roentgenol 2003;181(4): 1041-1048.
36. Certo M, Lopes L, Ramada J. Blue rubber bleb nevus syndrome: manifestations at computed tomography. Acta Radiol 2007;48(9):962-966.
37. Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84(5):389-395.
38. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Ar-tic Ser 1979;15(5B):291-296.
39. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, mac-rocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983;140(1):5-12.
40. Tan WH, Baris HN, Burrows PE, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007;44(9):594-602.
41. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365(7): 611-619.
42. Death of the "Elephant Man". BMJ 1890;1529: 916-917.
43. Yamamoto A, Kikuchi Y, Yuzurihara M, Kubota M, O'uchi T. A case of Proteus syndrome with severe spinal canal stenosis, scoliosis, and thoracic deformity associated with tethered cord. Jpn J Radiol 2012;30(4):336-339.
44. Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Radiologic manifestations of Proteus syndrome. RadioGraphics 2004;24(4):1051-1068.
45. Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomato-sis. J Bone Joint Surg Am 1955;37-A(5):985-1004.
46. Jackson JB. A singular case of absorption of bone (a boneless arm). Boston Med Surg J 1838;18:368.
47. Patel DV. Gorham's disease or massive osteolysis. Clin Med Res 2005;3(2):65-74.
48. Kai B, Ryan A, Munk PL, Dunlop P. Gorham disease of bone: three cases and review of radiological features. Clin Radiol 2006;61(12):1058-1064.
49. Vinée P, Tanyü MO, Hauenstein KH, Sigmund G, Stöver B, Adler CP. CT and MRI of Gorham syndrome. J Comput Assist Tomogr 1994;18(6): 985-989.
50. Ceroni D, De Coulon G, Regusci M, Kaelin A. Gorham-Stout disease of costo-vertebral localization: radiographic, scintigraphic, computed tomography, and magnetic resonance imaging fndings. Acta Radiol 2004;45(4):464-468.
51. Maffucci A. Di un caso di encondroma ed angioma multiplo. Mov Med Chir Nap 1881;3:399-412.
52. Zwenneke Flach H, Ginai AZ, Wolter Oosterhuis J. Maffucci syndrome: radiologic and pathologic fndings. RadioGraphics 2001;21(5):1311-1316.
53. Collins PS, Han W, Williams LR, Rich N, Lee JF, Villavicencio JL. Maffucci's syndrome (hemangio-matosis osteolytica): a report of four cases. J Vasc Surg 1992;16(3):364-371.
54. Flemming DJ, Murphey MD. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol 2000;4(1):59-71.
55. Weber P. Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907;19:231-235.
56. Ziyeh S, Spreer J, Rössler J, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol 2004;14(11):2025-2029.
57. Roebuck DJ. Klippel-Trénaunay and Parkes-Weber syndromes. AJR Am J Roentgenol 1997;169(1): 311-312.
58. Del-Río E, Aguilar A, Ambrojo P, Vélez A, Sánchez Yus E. Pseudo-Kaposi sarcoma induced by minor trauma in a patient with Klippel-Trenaunay-Weber syndrome. Clin Exp Dermatol 1993;18(2):151-153.
59. Rendu M. Epistaxis repetees chez un sujet porteur de petiis angiomes cutanes et muqueux. Bull Mem Soc Med Hop Paris 1896;13:731.
60. Osler W. On a family form of recurring epistaxis, associated with multiple telangiectasis of skin and mucous membranes. Bull Johns Hopkins Hosp 1901;12:333.
61. Weber FP. Multiple hereditary developmental an-giomata (telangiectases) of the skin and mucous membranes associated with recurring hemorrhages. Lancet 1907;2:160.
62. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 2011;13(7):607-616.
63. Gordon KJ, Blobe GC. Role of transforming growth factor-beta superfamily signaling pathways in human disease. Biochim Biophys Acta 2008; 1782(4):197-228.
64. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 2010;128(1):61-77.
65. Jaskolka J, Wu L, Chan RP, Faughnan ME. Imaging of hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol 2004;183(2):307-314.
66. González SB, Busquets JC, Figueiras RG, et al. Imaging arteriovenous fstulas. AJR Am J Roent-genol 2009;193(5):1425-1433.
67. Krings T, Geibprasert S, Luo CB, Bhattacharya JJ, Alvarez H, Lasjaunias P. Segmental neurovascular syndromes in children. Neuroimaging Clin N Am 2007;17(2):245-258.
68. Bhattacharya JJ, Luo CB, Suh DC, Alvarez H, Rodesch G, Lasjaunias P. Wyburn-Mason or Bonnet-Dechaume-Blanc as cerebrofacial arterio-venous metameric syndromes (CAMS): a new concept and a new classifcation. Interv Neuroradiol 2001;7(1):5-17.
69. Clark MT, Brooks EL, Chong W, Pappas C, Fahey M. Cobb syndrome: a case report and systematic review of the literature. Pediatr Neurol 2008;39 (6):423-425.
70. Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 1978;16: 82-84.
71. Frieden IJ, Reese V, 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 1996;132(3):307-311.
72. Oza VS, Wang E, Berenstein A, et al. PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol 2008;29(4):807-813.
73. Kasabach HH, Merritt KK. Capillary hemangioma with extensive purpura: report of a case. Am J Dis Child 1940;59:1063-1070.
74. Enjolras O, Mulliken JB, Wassef M, et al. Residual lesions after Kasabach-Merritt phenomenon in 41 patients. J Am Acad Dermatol 2000;42:225-235.
75. Kelly M. Kasabach-Merritt phenomenon. Pediatr Clin North Am 2010;57(5):1085-1089.