The Role of Syndromes

  • Massimo Vaghi


Vascular malformation syndromes with particular involvement of anatomical areas, genetic peculiarities and specific therapies are given eponyms. There are capillary, arterial, venous, lymphatic and arteriovenous syndromes.


Fabry Disease Proteus Syndrome Blue Rubber Bleb Nevus Syndrome Gorham Stout Disease Lymphatic Malforma 
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  1. 1.
    Etchves HC, Vincent C, Le Douarin NM, Couly GF (2001) The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 128:1059–1068Google Scholar
  2. 2.
    Ville D, Enjorlas O, Chiron C, Dulac O (2002) Prophylactic antiepileptic treatment in Sturge Weber disease. Seizure 11:145–150CrossRefPubMedGoogle Scholar
  3. 3.
    Berry SA, Pearson C, Mize W et al (1998) Klippel Trenaunay syndrome. Am J Med Gen 79:319–326CrossRefGoogle Scholar
  4. 4.
    Maari C, Frieden IJ (2004) Klippel-Trenaunay: the importance of geographic stains in identifying lymphatic disease and the risk of complications. J Am Acad Dermatology 51:391–398CrossRefGoogle Scholar
  5. 5.
    Turner JT, Cohen MM, Biesecker LG (2004) Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Genet 130:111–122CrossRefGoogle Scholar
  6. 6.
    Devillers AC, deWaard-van der Speck, Oranj AP (1999) Cutis marmorata teleangiectasica congenita: clinical features in 35 cases. Arch Dermatol 135:34–38CrossRefPubMedGoogle Scholar
  7. 7.
    Bayrak-Todemir P, Mao R, Lewin S, McDonald J (2004) Hereditary hemorrhagic teleangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med 6:175–191CrossRefGoogle Scholar
  8. 8.
    Begbie ME, Wallace GM, Shovlin Cl (2003) Hereditary hemorrhagic teleangiectasia: a view from the 21st century. Postgraduate Med J 79:18–24CrossRefGoogle Scholar
  9. 9.
    Gungor T, Buhring I, Cremer R et al (1997) Pathogenesis, diagnosis, clinical and therapeutical aspects of ataxia teleangiectasia. Klin Padiatr 209:328–335CrossRefPubMedGoogle Scholar
  10. 10.
    Linthorst GE, De Rie MA, Tjam KH et al (2004) Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. Br J Dermatol 150:575–577CrossRefPubMedGoogle Scholar
  11. 11.
    Hirayama T, Sabokbar A, Itonaga I et al (2001) Cellular and humoral mechanism of osteoclast formation and bone resorption in Gorham Stout disease. J Pathol 195:624–630CrossRefPubMedGoogle Scholar
  12. 12.
    Ertem D Acarv Y, Kotiloglu et al (2001) Blue rubber bleb nevus syndrome. Pediatrics 107:418–420CrossRefPubMedGoogle Scholar
  13. 13.
    Domini M, Aquino A, Fakhro A et al (2002) Blue rubber web nevus syndrome and gastrointestinal haemorrhage: which treatment? Eur J Pediatr Surg 12:129–133CrossRefPubMedGoogle Scholar
  14. 14.
    Wassef M, Vanwijck R, Clapuyt P, Boon L, Magalon G (2006) Vascular tumors and malformations, classification, pathology and imaging. Ann Chir Plast Esthet 51(4–5):263–281CrossRefPubMedGoogle Scholar
  15. 15.
    Bhattacharya JJ, Luo CB, Suh D (2001) Wyburn-Mason or Bonnet-Dechaume-Blanc as cerebro facial artero venous metameric syndromes. Intervent Neuroraradiol 7:5–17Google Scholar
  16. 16.
    Rodesch G, Hurth M, Alvarez H et al (2002) Classification of spinal cord arteriovenous shunts: proposal for a reappraisal. The Bicetre experience with 155 consecutive patients treated between 1981 and 1999. Neurosurgery 51:374–379CrossRefPubMedGoogle Scholar

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© Springer-Verlag Italia 2009

Authors and Affiliations

  • Massimo Vaghi
    • 1
  1. 1.Department of Vascular Surgery and Center for Vascular Malformations “Stefan Belov”“G. Salvini” HospitalGarbagnate Milanese (Milan)Italy

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