Vascular Anomalies in Pediatrics

Surgical Clinics of North America

Volumn 92, Issue 3, 2012, Pages 769-800

  Fevurly, R Dawn ^a   Fishman, Steven J ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Arteriovenous malformation; Hemangioma; Kaposiform hemangioendothelioma; Lymphatic malformation; Vascular anomaly; Vascular malformation; Venous malformation

Indexed keywords

ACETYLSALICYLIC ACID; ANGIOPOIETIN 2; ANGIOPOIETIN RECEPTOR; BETAMETHASONE DIPROPIONATE; CLOBETASOL PROPIONATE; CORTICOSTEROID; FC RECEPTOR IIB; GLUCOSE TRANSPORTER 1; INDOLEAMINE 2,3 DEOXYGENASE; MEROSIN; OXYGENASE; PREDNISOLONE; PROPRANOLOL; RECOMBINANT ALPHA2A INTERFERON; RECOMBINANT ALPHA2B INTERFERON; SOMATOMEDIN B; TRIAMCINOLONE; UNCLASSIFIED DRUG; VASCULOTROPIN A; VASCULOTROPIN RECEPTOR;

ANGIOOSTEOHYPERTROPHY SYNDROME; APOPTOSIS; ARTERIOVENOUS MALFORMATION; ARTIFICIAL EMBOLISM; BLEEDING; BLOOD VESSEL OCCLUSION; BLUE RUBBER BLEB NEVUS; CANCER INCIDENCE; CANCER PREVENTION; CANCER RISK; CAPILLARY HEMANGIOMA; CAPILLARY LYMPHATICOVENOUS MALFORMATION; CAPILLARY MALFORMATION; CAUCASIAN; CHILDHOOD DISEASE; COMPRESSION GARMENT; CONGENITAL BLOOD VESSEL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ECCHYMOSIS; ENDOTHELIUM CELL; FAMILY HISTORY; GENETIC DISORDER; HAMARTOMA; HEAD AND NECK TUMOR; HEMANGIOENDOTHELIOMA; HEMANGIOMA; HEMANGIOPERICYTOMA; HISTOPATHOLOGY; HUMAN; INFECTION; KAPOSIFORM HEMANGIOENDOTHELIOMA; KASABACH MERRITT SYNDROME; LIMB TUMOR; LOW BIRTH WEIGHT; LOW DRUG DOSE; LOW LEVEL LASER THERAPY; LYMPHATIC MALFORMATION; MULTIFOCAL HEMANGIOPERICYTOMA; PATHOGENESIS; PHYSICAL EXAMINATION; PREMATURITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTEN HAMARTOMA TUMOR SYNDROME; PYOGENIC GRANULOMA; RECEPTOR BINDING; RENDU OSLER WEBER DISEASE; REVIEW; SCLEROTHERAPY; SEX RATIO; SKIN DEFECT; SKIN SCAR; SKIN ULCER; SYSTEMIC THERAPY; TELANGIECTASIA; TREATMENT INDICATION; TRUNK; TUMOR LOCALIZATION; VASCULAR SURGERY; VEIN MALFORMATION; VEIN THROMBOSIS;

CHILD; DIAGNOSIS, DIFFERENTIAL; HEMANGIOMA; HUMANS; LYMPHANGIOMA; LYMPHATIC ABNORMALITIES; TELANGIECTASIS; VASCULAR MALFORMATIONS;

EID: 84861003192     PISSN: 00396109     EISSN: 15583171     Source Type: Journal    
DOI: 10.1016/j.suc.2012.03.016     Document Type: Review

References (182)

1. Mulliken J.B., Young A.E. Vascular birthmarks: hemangiomas and malformations 1988, Saunders, Philadelphia.
2. Vikkula M., Boon L.M., Mulliken J.B., et al. Molecular basis of vascular anomalies. Trends Cardiovasc Med 1998, 8:281-292.
3. Mulliken J.B., Fishman S.J., Burrows P.E. Vascular anomalies. Curr Probl Surg 2000, 37:517-584.
4. Mulliken J.B., Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 1982, 69:412-422.
5. Enjolras O. Vascular tumors and vascular malformations: are we at the dawn of a better knowledge?. Pediatr Dermatol 1999, 16:238-241.
6. Holmdahl K. Cutaneous hemangiomas in premature and mature infants. Acta Paediatr 1955, 44:370-379.
7. Amir J., Metzker A., Krikler R., et al. Strawberry hemangioma in preterm infants. Pediatr Dermatol 1986, 3:331-332.
8. Drolet B.A., Swanson E.A., Frieden I.J. Infantile hemangiomas: an emerging health issue linked to an increased rate of low birth weight infants. J Pediatr 2008, 153:712-715. 715.e711.
9. Cheung D.S., Warman M.L., Mulliken J.B. Hemangioma in twins. Ann Plast Surg 1997, 38:269-274.
10. Marchuk D.A. Pathogenesis of hemangioma. J Clin Invest 2001, 107:665-666.
11. Boye E., Yu Y., Paranya G., et al. Clonality and altered behavior of endothelial cells from hemangiomas. J Clin Invest 2001, 107:745-752.
12. Haggstrom A.N., Drolet B.A., Baselga E., et al. Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics. J Pediatr 2007, 150:291-294.
13. Finn M.C., Glowacki J., Mulliken J.B. Congenital vascular lesions: clinical application of a new classification. J Pediatr Surg 1983, 18:894-900.
14. Chiller K.G., Passaro D., Frieden I.J. Hemangiomas of infancy: clinical characteristics, morphologic subtypes, and their relationship to race, ethnicity, and sex. Arch Dermatol 2002, 138:1567-1576.
15. Haggstrom A.N., Drolet B.A., Baselga E., et al. Prospective study of infantile hemangiomas: clinical characteristics predicting complications and treatment. Pediatrics 2006, 118:882-887.
16. Horii K.A., Drolet B.A., Frieden I.J., et al. Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas. Pediatr Dermatol 2011, 28:245-253.
17. Boon L.M., Enjolras O., Mulliken J.B. Congenital hemangioma: evidence of accelerated involution. J Pediatr 1996, 128:329-335.
18. Enjolras O., Mulliken J.B., Boon L.M., et al. Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly. Plast Reconstr Surg 2001, 107:1647-1654.
19. Berenguer B., Mulliken J.B., Enjolras O., et al. Rapidly involuting congenital hemangioma: clinical and histopathologic features. Pediatr Dev Pathol 2003, 6:495-510.
20. Kulungowski A.M., Alomari A.I., Chawla A., et al. Lessons from a liver hemangioma registry: subtype classification. J Pediatr Surg 2012, 47:165-170.
21. Gorincour G., Kokta V., Rypens F., et al. Imaging characteristics of two subtypes of congenital hemangiomas: rapidly involuting congenital hemangiomas and non-involuting congenital hemangiomas. Pediatr Radiol 2005, 35:1178-1185.
22. Razon M.J., Kraling B.M., Mulliken J.B., et al. Increased apoptosis coincides with onset of involution in infantile hemangioma. Microcirculation 1998, 5:189-195.
23. Bowers R., Graham E., Tomlinson K. The natural history of the strawberry birthmark. Arch Dermatol 1960, 82:667-680.
24. Bischoff J. Progenitor cells in infantile hemangioma. J Craniofac Surg 2009, 20:695-697.
25. Khan Z.A., Boscolo E., Picard A., et al. Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice. J Clin Invest 2008, 118:2592-2599.
26. Dadras S.S., North P.E., Bertoncini J., et al. Infantile hemangiomas are arrested in an early developmental vascular differentiation state. Mod Pathol 2004, 17:1068-1079.
27. North P.E., Waner M., Mizeracki A., et al. A unique microvascular phenotype shared by juvenile hemangiomas and human placenta. Arch Dermatol 2001, 137:559-570.
28. Leon-Villapalos J., Wolfe K., Kangesu L. GLUT-1: an extra diagnostic tool to differentiate between haemangiomas and vascular malformations. Br J Plast Surg 2005, 58:348-352.
29. Huang S.A., Tu H.M., Harney J.W., et al. Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. N Engl J Med 2000, 343:185-189.
30. Picard A., Boscolo E., Khan Z.A., et al. IGF-2 and FLT-1/VEGF-R1 mRNA levels reveal distinctions and similarities between congenital and common infantile hemangioma. Pediatr Res 2008, 63:263-267.
31. Bree A.F., Siegfried E., Sotelo-Avila C., et al. Infantile hemangiomas: speculation on placental trophoblastic origin. Arch Dermatol 2001, 137:573-577.
32. Kleinman M.E., Tepper O.M., Capla J.M., et al. Increased circulating AC133+ CD34+ endothelial progenitor cells in children with hemangioma. Lymphat Res Biol 2003, 1:301-307.
33. Jinnin M., Medici D., Park L., et al. Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat Med 2008, 14:1236-1246.
34. Yu Y., Varughese J., Brown L.F., et al. Increased Tie2 expression, enhanced response to angiopoietin-1, and dysregulated angiopoietin-2 expression in hemangioma-derived endothelial cells. Am J Pathol 2001, 159:2271-2280.
35. Roberts D.M., Kearney J.B., Johnson J.H., et al. The vascular endothelial growth factor (VEGF) receptor Flt-1 (VEGFR-1) modulates Flk-1 (VEGFR-2) signaling during blood vessel formation. Am J Pathol 2004, 164:1531-1535.
36. Fong G.H., Rossant J., Gertsenstein M., et al. Role of the Flt-1 receptor tyrosine kinase in regulating the assembly of vascular endothelium. Nature 1995, 376:66-70.
37. Jinnin M., Ishihara T., Boye E., et al. Recent progress in studies of infantile hemangioma. J Dermatol 2010, 37:939-955.
38. Chang J., Most D., Bresnick S., et al. Proliferative hemangiomas: analysis of cytokine gene expression and angiogenesis. Plast Reconstr Surg 1999, 103:1-9. [discussion: 10].
39. Tille J.C., Pepper M.S. Hereditary vascular anomalies: new insights into their pathogenesis. Arterioscler Thromb Vasc Biol 2004, 24:1578-1590.
40. Takahashi K., Mulliken J.B., Kozakewich H.P., et al. Cellular markers that distinguish the phases of hemangioma during infancy and childhood. J Clin Invest 1994, 93:2357-2364.
41. Goldberg N.S., Hebert A.A., Esterly N.B. Sacral hemangiomas and multiple congenital abnormalities. Arch Dermatol 1986, 122:684-687.
42. Albright A.L., Gartner J.C., Wiener E.S. Lumbar cutaneous hemangiomas as indicators of tethered spinal cords. Pediatrics 1989, 83:977-980.
43. Kasabach H., Merritt K. Capillary hemangioma with extensive purpura: report of a case. Am J Dis Child 1940, 59:1063-1070.
44. Metry D., Heyer G., Hess C., et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics 2009, 124:1447-1456.
45. Enjolras O., Gelbert F. Superficial hemangiomas: associations and management. Pediatr Dermatol 1997, 14:173-179.
46. Sarkar M., Mulliken J.B., Kozakewich H.P., et al. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg 1997, 100:1377-1386.
47. Jones E.W., Orkin M. Tufted angioma (angioblastoma). A benign progressive angioma, not to be confused with Kaposi's sarcoma or low-grade angiosarcoma. J Am Acad Dermatol 1989, 20:214-225.
48. Osio A., Fraitag S., Hadj-Rabia S., et al. Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature. Arch Dermatol 2010, 146:758-763.
49. Hall G.W. Kasabach-Merritt syndrome: pathogenesis and management. Br J Haematol 2001, 112:851-862.
50. Rodriguez V., Lee A., Witman P.M., et al. Kasabach-Merritt phenomenon: case series and retrospective review of the mayo clinic experience. J Pediatr Hematol Oncol 2009, 31:522-526.
51. Seo S.K., Suh J.C., Na G.Y., et al. Kasabach-Merritt syndrome: identification of platelet trapping in a tufted angioma by immunohistochemistry technique using monoclonal antibody to CD61. Pediatr Dermatol 1999, 16:392-394.
52. Martinez-Perez D., Fein N.A., Boon L.M., et al. Not all hemangiomas look like strawberries: uncommon presentations of the most common tumor of infancy. Pediatr Dermatol 1995, 12:1-6.
53. Barnes C.M., Huang S., Kaipainen A., et al. Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A 2005, 102:19097-19102.
54. Ryan C., Price V., John P., et al. Kasabach-Merritt phenomenon: a single centre experience. Eur J Haematol 2010, 84:97-104.
55. Haisley-Royster C., Enjolras O., Frieden I.J., et al. Kasabach-Merritt phenomenon: a retrospective study of treatment with vincristine. J Pediatr Hematol Oncol 2002, 24:459-462.
56. Fahrtash F., McCahon E., Arbuckle S. Successful treatment of kaposiform hemangioendothelioma and tufted angioma with vincristine. J Pediatr Hematol Oncol 2010, 32:506-510.
57. Gidding C.E., Kellie S.J., Kamps W.A., et al. Vincristine revisited. Crit Rev Oncol Hematol 1999, 29:267-287.
58. Chang E., Boyd A., Nelson C.C., et al. Successful treatment of infantile hemangiomas with interferon-alpha-2b. J Pediatr Hematol Oncol 1997, 19:237-244.
59. Harper L., Michel J.L., Enjolras O., et al. Successful management of a retroperitoneal kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon using alpha-interferon. Eur J Pediatr Surg 2006, 16:369-372.
60. Blatt J., Stavas J., Moats-Staats B., et al. Treatment of childhood kaposiform hemangioendothelioma with sirolimus. Pediatr Blood Cancer 2010, 55:1396-1398.
61. Hammill A.M., Wentzel M., Gupta A., et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer 2011, 28:1018-1024.
62. Gruman A., Liang M.G., Mulliken J.B., et al. Kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon. J Am Acad Dermatol 2005, 52:616-622.
63. Enjolras O., Mulliken J.B., Wassef M., et al. Residual lesions after Kasabach-Merritt phenomenon in 41 patients. J Am Acad Dermatol 2000, 42:225-235.
64. Patrice S.J., Wiss K., Mulliken J.B. Pyogenic granuloma (lobular capillary hemangioma): a clinicopathologic study of 178 cases. Pediatr Dermatol 1991, 8:267-276.
65. Boon L.M., Fishman S.J., Lund D.P., et al. Congenital fibrosarcoma masquerading as congenital hemangioma: report of two cases. J Pediatr Surg 1995, 30:1378-1381.
66. Kirschner R.E., Low D.W. Treatment of pyogenic granuloma by shave excision and laser photocoagulation. Plast Reconstr Surg 1999, 104:1346-1349.
67. Hobert J.A., Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med 2009, 11:687-694.
68. Tan W.H., Baris H.N., Burrows P.E., et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007, 44:594-602.
69. Chung K.C., Weiss S.W., Kuzon W.M. Multifocal congenital hemangiopericytomas associated with Kasabach-Merritt syndrome. Br J Plast Surg 1995, 48:240-242.
70. Margileth A.M., Museles M. Cutaneous hemangiomas in children. Diagnosis and conservative management. JAMA 1965, 194:523-526.
71. Greene A.K., Rogers G.F., Mulliken J.B. Management of parotid hemangioma in 100 children. Plast Reconstr Surg 2004, 113:53-60.
72. Hermans D.J., Boezeman J.B., Van de Kerkhof P.C., et al. Differences between ulcerated and non-ulcerated hemangiomas, a retrospective study of 465 cases. Eur J Dermatol 2009, 19:152-156.
73. Waner M., Suen J.Y. The natural history of hemangiomas 1999, Wiley-Liss, New York.
74. Morelli J.G., Tan O.T., Yohn J.J., et al. Treatment of ulcerated hemangiomas infancy. Arch Pediatr Adolesc Med 1994, 148:1104-1105.
75. Orlow S.J., Isakoff M.S., Blei F. Increased risk of symptomatic hemangiomas of the airway in association with cutaneous hemangiomas in a " beard" distribution. J Pediatr 1997, 131:643-646.
76. Leaute-Labreze C., Dumas de la Roque E., Hubiche T., et al. Propranolol for severe hemangiomas of infancy. N Engl J Med 2008, 358:2649-2651.
77. Leaute-Labreze C., Taieb A. Ann Dermatol Venereol 2008, 135:860-862.
78. Buckmiller L.M., Munson P.D., Dyamenahalli U., et al. Propranolol for infantile hemangiomas: early experience at a tertiary vascular anomalies center. Laryngoscope 2010, 120:676-681.
79. Bagazgoitia L., Torrelo A., Gutierrez J.C., et al. Propranolol for Infantile Hemangiomas. Pediatr Dermatol 2011, 28:108-114.
80. Storch C.H., Hoeger P.H. Propranolol for infantile haemangiomas: insights into the molecular mechanisms of action. Br J Dermatol 2010, 163:269-274.
81. Sommers Smith S.K., Smith D.M. Beta blockade induces apoptosis in cultured capillary endothelial cells. Vitro Cell Dev Biol Anim 2002, 38:298-304.
82. Zhang D., Ma Q., Shen S., et al. Inhibition of pancreatic cancer cell proliferation by propranolol occurs through apoptosis induction: the study of beta-adrenoceptor antagonist's anticancer effect in pancreatic cancer cell. Pancreas 2009, 38:94-100.
83. Zvulunov A., McCuaig C., Frieden I.J., et al. Oral propranolol therapy for infantile hemangiomas beyond the proliferation phase: a multicenter retrospective study. Pediatr Dermatol 2011, 28:94-98.
84. Cushing S.L., Boucek R.J., Manning S.C., et al. Initial experience with a multidisciplinary strategy for initiation of propranolol therapy for infantile hemangiomas. Otolaryngol Head Neck Surg 2011, 144:78-84.
85. Maisel A.S., Motulsky H.J., Insel P.A. Propranolol treatment externalizes beta-adrenergic receptors in guinea pig myocardium and prevents further externalization by ischemia. Circ Res 1987, 60:108-112.
86. Harrison D.C., Meffin P.J., Winkle R.A. Clinical pharmacokinetics of antiarrhythmic drugs. Prog Cardiovasc Dis 1977, 20:217-242.
87. Holland K.E., Frieden I.J., Frommelt P.C., et al. Hypoglycemia in children taking propranolol for the treatment of infantile hemangioma. Arch Dermatol 2010, 146:775-778.
88. Pope E., Chakkittakandiyil A. Topical timolol gel for infantile hemangiomas: a pilot study. Arch Dermatol 2010, 146:564-565.
89. Garzon M.C., Lucky A.W., Hawrot A., et al. Ultrapotent topical corticosteroid treatment of hemangiomas of infancy. J Am Acad Dermatol 2005, 52:281-286.
90. Enjolras O., Riche M.C., Merland J.J., et al. Management of alarming hemangiomas in infancy: a review of 25 cases. Pediatrics 1990, 85:491-498.
91. Greenberger S., Boscolo E., Adini I., et al. Corticosteroid suppression of VEGF-A in infantile hemangioma-derived stem cells. N Engl J Med 2010, 362:1005-1013.
92. George M.E., Sharma V., Jacobson J., et al. Adverse effects of systemic glucocorticosteroid therapy in infants with hemangiomas. Arch Dermatol 2004, 140:963-969.
93. Boon L.M., MacDonald D.M., Mulliken J.B. Complications of systemic corticosteroid therapy for problematic hemangioma. Plast Reconstr Surg 1999, 104:1616-1623.
94. Blei F., Chianese J. Corticosteroid toxicity in infants treated for endangering hemangiomas: experience and guidelines for monitoring. Int Pediatr 1999, 14:146-153.
95. Barlow C.F., Priebe C.J., Mulliken J.B., et al. Spastic diplegia as a complication of interferon alfa-2a treatment of hemangiomas of infancy. J Pediatr 1998, 132:527-530.
96. White C.W., Wolf S.J., Korones D.N., et al. Treatment of childhood angiomatous diseases with recombinant interferon alfa-2a. J Pediatr 1991, 118:59-66.
97. Ezekowitz R.A., Mulliken J.B., Folkman J. Interferon alfa-2a therapy for life-threatening hemangiomas of infancy. N Engl J Med 1992, 326:1456-1463.
98. Greinwald J.H., Burke D.K., Bonthius D.J., et al. An update on the treatment of hemangiomas in children with interferon alfa-2a. Arch Otolaryngol Head Neck Surg 1999, 125:21-27.
99. Perez J., Pardo J., Gomez C. Vincristine-an effective treatment of corticoid-resistant life-threatening infantile hemangiomas. Acta Oncol 2002, 41:197-199.
100. Hohenleutner S., Badur-Ganter E., Landthaler M., et al. Long-term results in the treatment of childhood hemangioma with the flashlamp-pumped pulsed dye laser: an evaluation of 617 cases. Lasers Surg Med 2001, 28:273-277.
101. Sie K.C., McGill T., Healy G.B. Subglottic hemangioma: ten years' experience with the carbon dioxide laser. Ann Otol Rhinol Laryngol 1994, 103:167-172.
102. Fishman S.J., Fox V.L. Visceral vascular anomalies. Gastrointest Endosc Clin N Am 2001, 11:813-834. viii.
103. Christison-Lagay E.R., Burrows P.E., Alomari A., et al. Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry. J Pediatr Surg 2007, 42:62-67. [discussion: 67-8].
104. Christison-Lagay E.R., Fishman S.J. Vascular anomalies. Surg Clin North Am 2006, 86:393-425. x.
105. Limaye N., Boon L.M., Vikkula M. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 2009, 18:R65-R74.
106. Brouillard P., Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet 2007, 16:R140-R149.
107. Sadler T.W. Langman's medical embryology 2004, Lippincott Williams & Wilkins, Philadelphia.
108. Folkman J., D'Amore P.A. Blood vessel formation: what is its molecular basis?. Cell 1996, 87:1153-1155.
109. Wang H.U., Chen Z.F., Anderson D.J. Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4. Cell 1998, 93:741-753.
110. Ramsauer M., D'Amore P.A. Getting Tie(2)d up in angiogenesis. J Clin Invest 2002, 110:1615-1617.
111. Karpanen T., Alitalo K. Molecular biology and pathology of lymphangiogenesis. Annu Rev Pathol 2008, 3:367-397.
112. Rodriguez-Niedenfuhr M., Papoutsi M., Christ B., et al. Prox1 is a marker of ectodermal placodes, endodermal compartments, lymphatic endothelium and lymphangioblasts. Anat Embryol (Berl) 2001, 204:399-406.
113. Oliver G., Srinivasan R.S. Lymphatic vasculature development: current concepts. Ann N Y Acad Sci 2008, 1131:75-81.
114. Banerji S., Ni J., Wang S.X., et al. LYVE-1, a new homologue of the CD44 glycoprotein, is a lymph-specific receptor for hyaluronan. J Cell Biol 1999, 144:789-801.
115. Hong Y.K., Harvey N., Noh Y.H., et al. Prox1 is a master control gene in the program specifying lymphatic endothelial cell fate. Dev Dyn 2002, 225:351-357.
116. Karkkainen M.J., Haiko P., Sainio K., et al. Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins. Nat Immunol 2004, 5:74-80.
117. Jacobs A.H., Walton R.G. The incidence of birthmarks in the neonate. Pediatrics 1976, 58:218-222.
118. Smoller B.R., Rosen S. Port-wine stains. A disease of altered neural modulation of blood vessels?. Arch Dermatol 1986, 122:177-179.
119. Breugem C.C., Alders M., Salieb-Beugelaar G.B., et al. A locus for hereditary capillary malformations mapped on chromosome 5q. Hum Genet 2002, 110:343-347.
120. Eerola I., Boon L.M., Mulliken J.B., et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003, 73:1240-1249.
121. Tan O.T., Sherwood K., Gilchrest B.A. Treatment of children with port-wine stains using the flashlamp-pulsed tunable dye laser. N Engl J Med 1989, 320:416-421.
122. van der Horst C.M., Koster P.H., de Borgie C.A., et al. Effect of the timing of treatment of port-wine stains with the flash-lamp-pumped pulsed-dye laser. N Engl J Med 1998, 338:1028-1033.
123. Chapas A.M., Eickhorst K., Geronemus R.G. Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med 2007, 39:563-568.
124. Amitai D.B., Fichman S., Merlob P., et al. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol 2000, 17:100-104.
125. Fujita M., Darmstadt G.L., Dinulos J.G. Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. J Am Acad Dermatol 2003, 48:950-954.
126. Vogel A.M., Paltiel H.J., Kozakewich H.P., et al. Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. J Pediatr Surg 2005, 40:e9-12.
127. McDonald J., Damjanovich K., Millson A., et al. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet 2011, 79:335-344.
128. McAllister K.A., Grogg K.M., Johnson D.W., et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994, 8:345-351.
129. Johnson D.W., Berg J.N., Baldwin M.A., et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996, 13:189-195.
130. Shovlin C.L. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010, 24:203-219.
131. Govani F.S., Shovlin C.L. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009, 17:860-871.
132. Florez-Vargas A., Vargas S.O., Debelenko L.V., et al. Comparative analysis of D2-40 and LYVE-1 immunostaining in lymphatic malformations. Lymphology 2008, 41:103-110.
133. Bruder E., Perez-Atayde A.R., Jundt G., et al. Vascular lesions of bone in children, adolescents, and young adults. A clinicopathologic reappraisal and application of the ISSVA classification. Virchows Arch 2009, 454:161-179.
134. Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005, 353:2001-2011.
135. Graesslin O., Derniaux E., Alanio E., et al. Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester. Acta Obstet Gynecol Scand 2007, 86:1442-1446.
136. Marler J.J., Fishman S.J., Upton J., et al. Prenatal diagnosis of vascular anomalies. J Pediatr Surg 2002, 37:318-326.
137. Puig S., Casati B., Staudenherz A., et al. Vascular low-flow malformations in children: current concepts for classification, diagnosis and therapy. Eur J Radiol 2005, 53:35-45.
138. Fishman S.J., Burrows P.E., Upton J., et al. Life-threatening anomalies of the thoracic duct: anatomic delineation dictates management. J Pediatr Surg 2001, 36:1269-1272.
139. Padwa B.L., Hayward P.G., Ferraro N.F., et al. Cervicofacial lymphatic malformation: clinical course, surgical intervention, and pathogenesis of skeletal hypertrophy. Plast Reconstr Surg 1995, 95:951-960.
140. Gorham L.W., Stout A.P. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. J Bone Joint Surg Am 1955, 37:985-1004.
141. Vinee P., Tanyu M.O., Hauenstein K.H., et al. CT and MRI of Gorham syndrome. J Comput Assist Tomogr 1994, 18:985-989.
142. Venkatramani R., Ma N.S., Pitukcheewanont P., et al. Gorham's disease and diffuse lymphangiomatosis in children and adolescents. Pediatr Blood Cancer 2011, 56:667-670.
143. Gondivkar S.M., Gadbail A.R. Gorham-Stout syndrome: a rare clinical entity and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010, 109:e41-e48.
144. Connell F.C., Ostergaard P., Carver C., et al. Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. Hum Genet 2009, 124:625-631.
145. Karkkainen M.J., Ferrell R.E., Lawrence E.C., et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 2000, 25:153-159.
146. Irrthum A., Karkkainen M.J., Devriendt K., et al. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 2000, 67:295-301.
147. Petrova T.V., Karpanen T., Norrmen C., et al. Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis. Nat Med 2004, 10:974-981.
148. Mellor R.H., Brice G., Stanton A.W., et al. Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. Circulation 2007, 115:1912-1920.
149. Fang J., Dagenais S.L., Erickson R.P., et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 2000, 67:1382-1388.
150. Rezaie T., Ghoroghchian R., Bell R., et al. Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. Eur J Hum Genet 2008, 16:300-304.
151. Orford J., Barker A., Thonell S., et al. Bleomycin therapy for cystic hygroma. J Pediatr Surg 1995, 30:1282-1287.
152. Niramis R., Watanatittan S., Rattanasuwan T. Treatment of cystic hygroma by intralesional bleomycin injection: experience in 70 patients. Eur J Pediatr Surg 2010, 20:178-182.
153. Perkins J.A., Manning S.C., Tempero R.M., et al. Lymphatic malformations: review of current treatment. Otolaryngol Head Neck Surg 2010, 142:795-803. 803.e791.
154. Alqahtani A., Nguyen L.T., Flageole H., et al. 25 years' experience with lymphangiomas in children. J Pediatr Surg 1999, 34:1164-1168.
155. Baskerville P.A., Ackroyd J.S., Lea Thomas M., et al. The Klippel-Trenaunay syndrome: clinical, radiological and haemodynamic features and management. Br J Surg 1985, 72:232-236.
156. de la Torre L., Carrasco D., Mora M.A., et al. Vascular malformations of the colon in children. J Pediatr Surg 2002, 37:1754-1757.
157. Kulungowski A.M., Fox V.L., Burrows P.E., et al. Portomesenteric venous thrombosis associated with rectal venous malformations. J Pediatr Surg 2010, 45:1221-1227.
158. Limaye N., Wouters V., Uebelhoer M., et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet 2009, 41:118-124.
159. Jones N., Iljin K., Dumont D.J., et al. Tie receptors: new modulators of angiogenic and lymphangiogenic responses. Nat Rev Mol Cell Biol 2001, 2:257-267.
160. Maisonpierre P.C., Suri C., Jones P.F., et al. Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis. Science 1997, 277:55-60.
161. Suri C., Jones P.F., Patan S., et al. Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis. Cell 1996, 87:1171-1180.
162. Vikkula M., Boon L.M., Carraway K.L., et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 1996, 87:1181-1190.
163. Calvert J.T., Riney T.J., Kontos C.D., et al. Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet 1999, 8:1279-1289.
164. Boon L.M., Mulliken J.B., Enjolras O., et al. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol 2004, 140:971-976.
165. Brouillard P., Boon L.M., Mulliken J.B., et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (" glomangiomas" ). Am J Hum Genet 2002, 70:866-874.
166. Oranje A.P. Blue rubber bleb nevus syndrome. Pediatr Dermatol 1986, 3:304-310.
167. Barlas A., Avsar E., Bozbas A., et al. Role of capsule endoscopy in blue rubber bleb nevus syndrome. Can J Surg 2008, 51:E119-E120.
168. Hofhuis W.J., Oranje A.P., Bouquet J., et al. Blue rubber-bleb naevus syndrome: report of a case with consumption coagulopathy complicated by manifest thrombosis. Eur J Pediatr 1990, 149:526-528.
169. Smithers C.J., Vogel A.M., Kozakewich H.P., et al. An injectable tissue-engineered embolus prevents luminal recanalization after vascular sclerotherapy. J Pediatr Surg 2005, 40:920-925.
170. Berenguer B., Burrows P.E., Zurakowski D., et al. Sclerotherapy of craniofacial venous malformations: complications and results. Plast Reconstr Surg 1999, 104:1-11. [discussion: 12-5].
171. Fishman S.J., Burrows P.E., Leichtner A.M., et al. Gastrointestinal manifestations of vascular anomalies in childhood: varied etiologies require multiple therapeutic modalities. J Pediatr Surg 1998, 33:1163-1167.
172. Fishman S.J., Smithers C.J., Folkman J., et al. Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 2005, 241:523-528.
173. Fishman S.J., Shamberger R.C., Fox V.L., et al. Endorectal pull-through abates gastrointestinal hemorrhage from colorectal venous malformations. J Pediatr Surg 2000, 35:982-984.
174. Liu A.S., Mulliken J.B., Zurakowski D., et al. Extracranial arteriovenous malformations: natural progression and recurrence after treatment. Plast Reconstr Surg 2010, 125:1185-1194.
175. Kohout M.P., Hansen M., Pribaz J.J., et al. Arteriovenous malformations of the head and neck: natural history and management. Plast Reconstr Surg 1998, 102:643-654.
176. Revencu N., Boon L.M., Mulliken J.B., et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008, 29:959-965.
177. Jacob A.G., Driscoll D.J., Shaughnessy W.J., et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc 1998, 73:28-36.
178. Liu N.F., Lu Q., Yan Z.X. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg 2010, 52:1557-1563.
179. Smithers C.J., Fishman S.J. Vascular anomalies 2004, Elsevier Saunders, Philadelphia.
180. Alomari A.I. Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. Clin Dysmorphol 2008, 18:1-7.
181. Sapp J.C., Turner J.T., van de Kamp J.M., et al. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 2007, 143:2944-2958.
182. Fernandez-Pineda I., Fajardo M., Chaudry G., et al. Perinatal clinical and imaging features of CLOVES syndrome. Pediatr Radiol 2010, 40:1436-1439.