Part 6, Reference for Chapter 73: Disorders Affecting Cutaneous Vasculature
Skip chapter table of contents and go to main content
- 1 Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 1982;69(3):412–22. Cross Ref link Pubmed link , .
- 2 , , , et al. The 2014 updated ISSVA* classification of vascular anomalies. Pediatrics (submitted).
- 3 The incidence of birthmarks in the neonate. Pediatrics 1976;58(2):218–22. Pubmed link , .
- 4 Vascular anomalies. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell D, eds. Fitzpatrick's Dermatology in General Medicine, Vol. 2, 8th edn. New York: McGraw‐Hill, 2012:2076–94. , .
- 5 Sturge‐Weber syndrome and port‐wine stains caused by somatic mutation in GNAQ. New Engl J Med 2013;368(21):1971–9. Cross Ref link Pubmed link , , , et al.
- 6 Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457(7229):599–602. Cross Ref link Pubmed link , , , et al.
- 7 Clinical efficacy of the pulsed dye laser in the treatment of vascular lesions. J Dermatol Surg Oncol 1993;19(4):321–6. Cross Ref link Pubmed link , .
- 8 Outcome of Sturge‐Weber syndrome in 52 adults. Am J Med Genet 1995;57(1):35–45. Cross Ref link Pubmed link , .
- 9 Capillary malformation‐arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73(6):1240–9. Cross Ref link Pubmed link , , , et al.
- 10 RASA1 mutations and associated phenotypes in 68 families with capillary malformation‐arteriovenous malformation. Hum Mutat 2013;34(12):1632–41. Cross Ref link Pubmed link , , , et al.
- 11 Familial capillary malformation maps to chromosome 5q. Eur J Hum Genet 2002;10(6):216. Cross Ref link , , , , , .
- 12 RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 2005;15(3):265–9. Cross Ref link Pubmed link , , .
- 13 MicroRNA‐132‐mediated loss of p120RasGAP activates the endothelium to facilitate pathological angiogenesis. Nat Med 2010;16(8):909–14. Cross Ref link Pubmed link , , , et al.
- 14 Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29(7):959–65. Cross Ref link Pubmed link , , , et al.
- 15 RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. J Clin Invest 2014;124(6):2774–84. Cross Ref link Pubmed link , , , et al.
- 16 http://www.els.net/WileyCDA/ElsArticle/refId‐a0022479.html (last accessed January 2015). , , . Capillary malformation–arteriovenous malformation and RASA1 mutations. 2011.
- 17 Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B 2004;13(6):349–57. Cross Ref link Pubmed link , , .
- 18 Angioma serpiginosum. Br J Dermatol 1957;69(7/8):251–68. Cross Ref link Pubmed link
- 19 Angioma serpiginosum with oesophageal papillomatosis is an X‐linked dominant condition that maps to Xp11.3‐Xq12. Eur J Hum Genet 2007;15(5):543–7. Cross Ref link Pubmed link , , , , , .
- 20 An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X‐inactivation. Eur J Hum Genet 2008;16(9):1027–8. Cross Ref link Pubmed link , , .
- 21 Genotype–phenotype correlations in cerebral cavernous malformations patients. Ann Neurol 2006;60(5):550–6. Cross Ref link Pubmed link , , , et al.
- 22 Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in‐frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. Hum Mutat 2008;29(5):709–17. Cross Ref link Pubmed link , , , et al.
- 23 Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two‐hit mechanism of CCM pathogenesis. Hum Mol Genet 2009;18(5):919–30. Pubmed link , , , , .
- 24 A two‐hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet 2009;18(5):911–18. Pubmed link , , , .
- 25 Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. J Eur Acad Dermatol Venereol 2009;23(9):1066–72. Cross Ref link Pubmed link , , , , .
- 26 Genetics of cavernous angiomas. Lancet Neurol 2007;6(3):237–44. Cross Ref link Pubmed link , , , .
- 27 Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16(4):899–906. Cross Ref link Pubmed link
- 28 Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012;90(6):1108–15. Cross Ref link Pubmed link , , , et al.
- 29 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44(8):934–40. Cross Ref link Pubmed link , , , et al.
- 30 A mosaic activating mutation in AKT1 associated with the Proteus syndrome. New Engl J Med 2011;365(7):611–19. Cross Ref link Pubmed link , , , et al.
- 31 Klippel‐Trenaunay syndrome: spectrum and management. Mayo Clin Proc 1998;73(1):28–36. Cross Ref link Pubmed link , , , , , .
- 32 Du naevus variquex osteohypertrophique. Arch Gen Med 1900;3:641–72. , .
- 33 Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 2007;143A(24):2944–58. Cross Ref link Pubmed link , , , , , .
- 34 The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 2006;14(11):1151–7. Cross Ref link Pubmed link
- 35 Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum. Am J Med Genet A 2014;164(7):1713–33. Cross Ref link , , , et al.
- 36 Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 2005;137C(1):38–52. Cross Ref link Pubmed link .
- 37 Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A 2004;130A(2):111–22. Cross Ref link Pubmed link , , .
- 38 Macrocephaly with cutis marmorata, haemangioma and syndactyly – a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6(4):291–302. Cross Ref link Pubmed link , , , et al.
- 39 Macrocephaly‐cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70(1):67–73. Cross Ref link Pubmed link , , , et al.
- 40 Macrocephaly‐cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet 2000;90(4):265–9. Cross Ref link Pubmed link , , , , , .
- 41 Macrocephaly–cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin Dysmorphol 2000;9(1):1–9. Cross Ref link Pubmed link , , , .
- 42 Neuroimaging findings in macrocephaly‐capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007;143A(24):2981–3008. Cross Ref link Pubmed link , , , et al.
- 43 Accurately renaming macrocephaly‐cutis marmorata telangiectatica congenita (M‐CMTC) as macrocephaly‐capillary malformation (M‐CM). Am J Med Genet A 2007;143A(24):3009. Cross Ref link Pubmed link , .
- 44 Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012;158A(2):269–91. Cross Ref link Pubmed link , , , et al.
- 45 Klippel‐Trenaunay syndrome: current management. Phlebol Venous Forum R Soc Med 2007;22(6):291–8. Cross Ref link , .
- 46 Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension. J Plast Reconstr Aesthet Surg 2009;62(5):684–9; discussion 689. Cross Ref link Pubmed link , , , .
- 47 Microcephaly‐capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. Am J Med Genet A 2011;155A(9):2078–9. Cross Ref link Pubmed link , .
- 48 The microcephaly‐capillary malformation syndrome. Am J Med Genet A 2011;155A(9):2080–7. Cross Ref link Pubmed link , , , , , .
- 49 Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly‐capillary malformation syndrome. Nat Genet 2013;45(5):556–62. Cross Ref link Pubmed link , , , et al.
- 50 Arteriovenous malformations. Lancet 2002;359(9309):863–73. Cross Ref link Pubmed link , .
- 51 Brain arteriovenous malformations in adults. Lancet Neurol 2005;4(5):299–308. Cross Ref link Pubmed link , .
- 52 Soft‐tissue vascular anomalies: utility of US for diagnosis. Radiology 2000;214(3):747–54. Cross Ref link Pubmed link , , , , .
- 53 Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med 2010;16(4):420–8. Cross Ref link Pubmed link , , , et al.
- 54 , , , et al. Thalidomide is an efficient treatment for arteriovenous malformations responsible for pain, ulceration and/or bleeding. in preparation.
- 55 Ultrastructure and three‐dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990;95(4):422–7. Cross Ref link Pubmed link , , .
- 56 Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. Am J Pathol 2000;156(3):911–23. Cross Ref link Pubmed link , , , et al.
- 57 Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day–60 years. Neuroradiology 2005;47(10):711–20. Cross Ref link Pubmed link , , , , , .
- 58 Endoglin, a TGF‐beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8(4):345–51. Cross Ref link Pubmed link , , , et al.
- 59 Mutations in the activin receptor‐like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13(2):189–95. Cross Ref link Pubmed link , , , et al.
- 60 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004;363(9412):852–9. Cross Ref link Pubmed link , , , et al.
- 61 A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005;42(7):577–82. Cross Ref link Pubmed link , , , .
- 62 A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A 2006;140(20):2155–62. Cross Ref link Pubmed link , , , et al.
- 63 BMP9 mutations cause a vascular‐anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet 2013;93(3):530–7. Cross Ref link Pubmed link , , , et al.
- 64 Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009;17(7):860–71. Cross Ref link Pubmed link , .
- 65 Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010;24(6):203–19. Cross Ref link Pubmed link
- 66 Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry 2003;74(6):743–8. Cross Ref link Pubmed link , , , , , .
- 67 International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48(2):73–87. Cross Ref link Pubmed link , , , et al.
- 68 Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA 2012;307(9):948–55. Pubmed link , , , et al.
- 69 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan‐Riley‐Ruvalcaba syndrome clinical features. J Med Genet 2011;48(8):505–12. Cross Ref link Pubmed link , , , , .
- 70 Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations. Eur J Hum Genet 1999;7(3):267–73. Cross Ref link Pubmed link , , , et al.
- 71 Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 2007;7(1):35–45. Cross Ref link Pubmed link , .
- 72 Mutation spectrum and genotype‐phenotype analyses in Cowden disease and Bannayan‐Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7(3):507–15. Cross Ref link Pubmed link , , , et al.
- 73 PTEN mutation spectrum and genotype‐phenotype correlations in Bannayan‐Riley‐Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8(8):1461–72. Cross Ref link Pubmed link , , , et al.
- 74 Mutations of PTEN in patients with Bannayan‐Riley‐Ruvalcaba phenotype. J Med Genet 1998;35(11):886–9. Cross Ref link Pubmed link , , , et al.
- 75 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007;44(9):594–602. Cross Ref link Pubmed link , , , et al.
- 76 Bannayan‐Riley‐Ruvalcaba syndrome. Am J Med Genet 1992;44(3):307–14. Cross Ref link Pubmed link , , , .
- 77 The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan‐Riley‐Ruvalcaba syndrome. J Med Genet 2001;38(1):52–8. Cross Ref link Pubmed link , , , , , .
- 78 Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. World J Gastroenterol 2014;20(7):1833–8. Cross Ref link Pubmed link , , , , , .
- 79 Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer 2011;57(2):321–3. Cross Ref link Pubmed link , , , , , .
- 80 Venous malformation: update on aetiopathogenesis, diagnosis and management. Phlebology 2010;25:224–35. Cross Ref link Pubmed link , , .
- 81 Genetic causes of vascular malformations. Hum Mol Genet 2007;16(Spec No. 2):R140–9. Cross Ref link Pubmed link , .
- 82 Elevated D‐dimer level in the differential diagnosis of venous malformations. Arch Dermatol 2009;145(11):1239–44. Pubmed link , , , et al.
- 83 From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 2009;18(R1):R65–74. Cross Ref link Pubmed link , , .
- 84 Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol 2008;144(7):873–7. Cross Ref link Pubmed link , , , et al.
- 85 Coagulation disorders in patients with venous malformation of the limbs and trunk: a case series of 118 patients. Arch Dermatol 2008;144(7):861–7. Cross Ref link Pubmed link , , , , , .
- 86 Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 1996;87(7):1181–90. Cross Ref link Pubmed link , , , et al.
- 87 Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet 2009;41(1):118–24. Cross Ref link Pubmed link , , , et al.
- 88 Variable somatic mutations in half of sporadic venous malformations. Mol Syndromol 2013;4(4):179–83. Pubmed link , , , , .
- 89 , , , et al. Identification of the cause of blue rubber bleb nevus syndrome. J Clin Invest (submitted).
- 90 Venous malformation‐causative TIE2 mutations mediate an AKT‐dependent decrease in PDGFB. Hum Mol Genet 2013;22(17):3438–48. Cross Ref link Pubmed link , , , et al.
- 91 Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol 2004;140(8):971–6. Cross Ref link Pubmed link , , , .
- 92 Sclerotherapy of craniofacial venous malformations: complications and results. Plast Reconstr Surg 1999;104(1):1–11; discussion 12–15. Cross Ref link Pubmed link , , , .
- 93 Pulmonary arterial hypertension in patients with slow‐flow vascular malformations. Arch Dermatol 2010;146(12):1347–52. Cross Ref link Pubmed link , , .
- 94 [Medical and surgical treatment of venous malformations.] Ann Chir Plast Esthet 2006;51(4/5):403–11. Cross Ref link Pubmed link , .
- 95 Ethanol sclerotherapy of venous malformations: evaluation of systemic ethanol contamination. J Vasc Interv Radiol 2001;12(5):595–600. Cross Ref link Pubmed link , , , .
- 96 Radio‐opaque ethylcellulose‐ethanol is a safe and efficient sclerosing agent for venous malformations. Eur Radiol. 2011;21(12):2647–56. Cross Ref link Pubmed link , , , et al.
- 97 , , , et al. Venous malformation : from causative mutations to murine model and targeted therapy. J Clin Invest (submitted).
- 98 Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 1994;3(9):1583–7. Cross Ref link Pubmed link , , , et al.
- 99 Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper‐phosphorylating effects. Eur J Hum Genet 2010;18(4):414–20. Cross Ref link Pubmed link , , , et al.
- 100 Pathogenesis of vascular anomalies. Clin Plast Surg 2011;38(1):7–19. Cross Ref link Pubmed link , , .
- 101 Case of nevus involving the parotid gland and causing death from suffocation: nevi of the viscera. Trans Patholog Soc Lond 1860;11:article 267. .
- 102 Vascular Spiders and Related Lesions of the Skin. Springfield, IL: Charles C. Thomas; Oxford: Blackwell Scientific Publications, 1958.
- 103 Blue rubber bleb nevus syndrome. Pediatr Dermatol 1986;3(4):304–10. Cross Ref link Pubmed link
- 104 Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 2005;241(3):523–8. Cross Ref link Pubmed link , , , et al.
- 105 Visceral vascular anomalies. Gastrointest Endo Clin North Am 2001;11(4):813–34,viii. , .
- 106 Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics 2012;129(4):e1080–4. Cross Ref link Pubmed link , , , .
- 107 Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. Eur J Hum Genet 2001;9(1):34–8. Cross Ref link Pubmed link , , , et al.
- 108 Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”). Am J Hum Genet 2002;70(4):866–74. Cross Ref link Pubmed link , , , et al.
- 109 Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect. J Med Genet 2005;42(2):e13. Cross Ref link Pubmed link , , , et al.
- 110 Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. Am J Hum Genet 2013;92(2):188–96. Cross Ref link Pubmed link , , , et al.
- 111 A gene for inherited cutaneous venous anomalies (“glomangiomas”) localizes to chromosome 1p21‐22. Am J Hum Genet 1999;65(1):125–33. Cross Ref link Pubmed link , , , et al.
- 112 Genotypes and phenotypes of 162 families with a glomulin mutation. Mol Syndromol 2013;4(4):157–64. Pubmed link , , , et al.
- 113 Congenital plaque‐type glomuvenous malformations presenting in childhood. Arch Dermatol 2006;142(7):892–6. Cross Ref link Pubmed link , , , et al.
- 114 Congenital plaque‐type glomuvenous malformations associated with fetal pleural effusion and ascites. Pediatr Dermatol 2010;28(5):528–31. Cross Ref link Pubmed link , , , et al.
- 115 Di un caso encondroma ed angioma multiplo. Contribuzione alla genesi embrionale dei tumori. In: Movimento Medico‐chirurgico, Vol. 3. Napoli, 1881:399–412, 565–75.
- 116 PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet 2008;17(18):2766–75. Cross Ref link Pubmed link , , , et al.
- 117 Loss‐of‐function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLOS Genet 2011;7(4):e1002050. Cross Ref link Pubmed link , , , et al.
- 118 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. Cross Ref link Pubmed link , , , et al.
- 119 Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet 2011;43(12):1262–5. Cross Ref link Pubmed link , , , et al.
- 120 Common somatic alterations identified in Maffucci syndrome by molecular karyotyping. Mol Syndromol 2014,5(6):259–67. Pubmed link , , , et al.
- 121 Two peculiar types of enchondromatosis. Pediatr Radiol 1978;7(4):215–19. Cross Ref link Pubmed link , , , .
- 122 Autosomal dominant inheritance of spondyloenchondrodysplasia. Am J Med Genet A 2005;135(3):282–8. Cross Ref link Pubmed link , , , .
- 123 Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol 2010;3(6):557–69. Pubmed link , , .
- 124 Hand involvement in Ollier disease and Maffucci syndrome: a case series. Acta Reumatol Port 2010;35(3):375–8. Pubmed link , , , .
- 125 Maffucci lymphangioma syndrome: an unusual variant of Ollier's disease, a case report and a review of the literature. J Pediatr Orthop B 2003;12(2):147–50. Pubmed link , , .
- 126 The malignant potential of enchondromatosis. J Bone Joint Surg Am 1987;69(2):269–74. Pubmed link , , , , , .
- 127 Malignancy in Maffucci's syndrome. Dermatol Clin 1995;13(1):73–8. Pubmed link , .
- 128 Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature. J Bone Joint Surg Am 1973;55(7):1465–79. Pubmed link , .
- 129 Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol 1993;29(5 Pt 2):894–9. Cross Ref link Pubmed link , , , .
- 130 Mutations in VEGFR3 signaling pathway explain 36% of familial lymphedema. Mol Syndromol 2013;4(6):257–66. Cross Ref link Pubmed link , , , et al.
- 131 Genetics of lymphatic anomalies. J Clin Invest 2014;124(3):898–904. Cross Ref link Pubmed link , , .
- 132 Identification of lymphatic endothelium in pediatric vascular tumors and malformations. Pediatr Dev Pathol 2005;8(2):181–9. Cross Ref link Pubmed link , .
- 133 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 2009;18(1):1–7. Cross Ref link Pubmed link .
- 134 Reconstructive surgery in the management of a patient with CLOVES syndrome. J Plast Reconstr Aesthet Surg 2013;66(12):1813–15. Cross Ref link Pubmed link , , , et al.
- 135 , , , et al. No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. submitted.
- 136 Prenatal diagnosis of vascular anomalies. J Pediatr Surg 2002;37(3):318–26. Cross Ref link Pubmed link , , , et al.
- 137 The Gorham‐Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. J Bone Joint Surg Br 1999;81(3):501–6. Cross Ref link Pubmed link , , , , , .
- 138 Gorham‐Stout disease and generalized lymphatic anomaly – clinical, radiologic, and histologic differentiation. Skeletal Radiol 2013;42(7):917–24. Cross Ref link Pubmed link , , , , , .
- 139 Lymphangiomas in children: MR imaging. Radiology 1989;170(2):467–70. Cross Ref link Pubmed link , , , .
- 140 Imaging of cervico‐thoracic lymphangiomas in children. Pediatr Radiol 1995;25(2):127–30. Cross Ref link Pubmed link , , , , , .
- 141 Diagnostic imaging in the evaluation of vascular birthmarks. Dermatol Clin 1998;16(3):455–88. Cross Ref link Pubmed link , , , .
- 142 Imaging of hemangiomas and vascular malformations in children. Acad Radiol 1998;5(5):390–400. Cross Ref link Pubmed link , , , et al.
- 143 OK‐432 therapy for lymphatic malformation in 32 patients (28 children). Int J Pediatr Otorhinolaryngol 2002;65(1):1–6. Cross Ref link Pubmed link , .
- 144 Bleomycin sclerotherapy in congenital lymphatic and vascular malformations of head and neck. Int J Pediatr Otorhinolaryngol 2005;69(1):75–80. Cross Ref link Pubmed link , , , , , .
- 145 Percutaneous sclerotherapy for lymphatic malformations: a retrospective analysis of patient‐evaluated improvement. J Vasc Interv Radiol 2006;17(10):1639–48. Cross Ref link Pubmed link , , , , .
- 146 Carbon dioxide laser for the treatment of microcystic lymphatic malformations (lymphangioma circumscriptum): a systematic review. Dermatol Surg 2013;39(8):1147–57. Cross Ref link Pubmed link , , , , , .
- 147 , , , et al. Rapamycin as a new treatment option for complex venous and lymphatic anomalies: preliminary results of a single center prospective phase‐II study. (In preparation.)
- 148 Sildenafil for severe lymphatic malformations. N Eng J Med 2012;366(4):384–6. Cross Ref link , , , , , .
- 149 Schimmelpenning syndrome: an association with vascular anomalies. Cleft Palate Craniofac J 2007;44(2):208–15. Cross Ref link Pubmed link , , .
- 150 Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 2012;44(7):783–7. Cross Ref link Pubmed link , , , et al.
- 151 Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 2000;67(2):295–301. Cross Ref link Pubmed link , , , , .
- 152 Missense mutations interfere with VEGFR‐3 signalling in primary lymphoedema. Nat Genet 2000;25(2):153–9. Cross Ref link Pubmed link , , , et al.
- 153 Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. J Med Genet 2009;46(6):399–404. Cross Ref link Pubmed link , , , et al.
- 154 Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. Prenat Diagn 2005;25(11):1015–18. Cross Ref link Pubmed link , , , et al.
- 155 Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Clin Genet 2006;70(4):330–5. Cross Ref link Pubmed link , , , et al.
- 156 Milroy disease and the VEGFR‐3 mutation phenotype. J Med Genet 2005;42(2):98–102. Cross Ref link Pubmed link , , , et al.
- 157 Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. J Pediatr 2009;155(1):90–3. Cross Ref link Pubmed link , , , et al.
- 158 Analysis of the phenotypic abnormalities in lymphoedema‐distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002;39(7):478–83. Cross Ref link Pubmed link , , , et al.
- 159 GJC2 missense mutations cause human lymphedema. Am J Hum Genet 2010;86(6):943–8. Cross Ref link Pubmed link , , , et al.
- 160 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. J Med Genet 2011;48(4):251–5. Cross Ref link Pubmed link , , , et al.
- 161 Mutation in vascular endothelial growth factor‐C, a ligand for vascular endothelial growth factor receptor‐3, is associated with autosomal dominant milroy‐like primary lymphedema. Circ Res 2013;112(6):956–60. Cross Ref link Pubmed link , , , et al.
- 162 A novel stop mutation in the vascular endothelial growth factor‐C gene (VEGFC) results in Milroy‐like disease. J Med Genet 2014;51(7):475–8. Cross Ref link Pubmed link , , , et al.
- 163 Supermicrosurgical lymphaticovenular anastomosis for the treatment of lymphedema in the upper extremities. J Reconstr Microsurg 2000;16(6):437–42. Cross Ref link Pubmed link , , , .
- 164 Liposuction in the treatment of lymphoedema; a preliminary report. Br J Plast Surg 1989;42(5):530–3. Cross Ref link Pubmed link , , , , .
- 165 Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet 2001;10(11):1185–9. Cross Ref link Pubmed link , , , et al.
- 166 Mutations in FOXC2 (MFH‐1), a forkhead family transcription factor, are responsible for the hereditary lymphedema‐distichiasis syndrome. Am J Hum Genet 2000;67(6):1382–8. Cross Ref link Pubmed link , , , et al.
- 167 Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis. Nat Med 2004;10(9):974–81. Cross Ref link Pubmed link , , , et al.
- 168 Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis‐lymphedema‐telangiectasia. Am J Hum Genet 2003;72(6):1470–8. Cross Ref link Pubmed link , , , et al.
- 169 Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet 2015;87:378–82. Cross Ref link Pubmed link , , , et al.
- 170 Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 1989;34(4):593–600. Cross Ref link Pubmed link , , , et al.
- 171 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009;41(12):1272–4. Cross Ref link Pubmed link , , , et al.
- 172 Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 2014;133(9):1161–7. Cross Ref link Pubmed link , , , et al.
- 173 Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 2010;127(2):231–41. Cross Ref link Pubmed link , , , et al.
- 174 CCBE1 enhances lymphangiogenesis via a disintegrin and metalloprotease with thrombospondin motifs‐3‐mediated vascular endothelial growth factor‐C activation. Circulation 2014;129(19):1962–71. Cross Ref link Pubmed link , , , et al.
- 175 Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet A 2003;120A(1):92–6. Cross Ref link Pubmed link , , , et al.
- 176 Stable reversal of pathologic signs of primitive intestinal lymphangiectasia with a hypolipidic, MCT‐enriched diet. Nutrition 2000;16(4):303–4. Cross Ref link Pubmed link , , , , , .
- 177 Octreotide for protein‐losing enteropathy with intestinal lymphangiectasia. Lancet 1995;345(8965):1639. Cross Ref link Pubmed link , , , , , .
- 178 Successful surgical treatment of two cases of congenital chylous ascites. J Pediatr Surg 2001;36(11):1717–19. Cross Ref link Pubmed link , , , et al.
- 179 Mutations in KIF11 cause autosomal‐dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet 2012;90(2):356–62. Cross Ref link Pubmed link , , , et al.
- 180 Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet 2010;87(3):436–44. Cross Ref link Pubmed link , , , et al.
- 181 Loss‐of‐function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 2012;119(5):1283–91. Cross Ref link Pubmed link , , , et al.
- 182 [Deaf‐mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission.] J Genet Hum 1979;27(3):237–45. Pubmed link , , , .