Capillary malformation - Arteriovenous malformation syndrome: Review of the literature, proposed diagnostic criteria, and recommendations for management

Pediatric Dermatology

Volumn 30, Issue 4, 2013, Pages 409-415

  Orme, Charisse M ^a   Boyden, Lynn M ^a   Choate, Keith A ^a   Antaya, Richard J ^a   King, Brett A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTERIOVENOUS MALFORMATION; AUTOSOMAL DOMINANT DISORDER; CAPILLARY MALFORMATION ARTERIOVENOUS MALFORMATION SYNDROME; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; GENE; GENE MUTATION; HUMAN; MEDICAL LITERATURE; PATIENT EDUCATION; PRIORITY JOURNAL; RASA1 GENE; REVIEW;

ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; CHILD; DERMATOLOGY; HUMANS; PEDIATRICS; PORT-WINE STAIN; SKIN DISEASES; VASCULAR MALFORMATIONS;

EID: 84879837826     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12112     Document Type: Review

References (33)

1. Garzon MC, Huang JT, Enjolras O, et al. Vascular malformations: Part I. J Am Acad Dermatol 2007; 56: 353-370.
2. Revencu N, Boon LM, Mulliken JB, 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.
3. Eerola I, Boon LM, Watanabe S, et al. Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. Eur J Hum Genet 2002; 10: 375-380.
4. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation- arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003; 73: 1240-1249.
5. Hershkovitz D, Bercovich D, Sprecher E, et al. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br J Dermatol 2008; 158: 1035-1040.
6. Hershkovitz D, Bergman R, Sprecher E,. A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res 2008; 300: 385-388.
7. Thiex R, Mulliken JB, Revencu N, et al. A novel association between RASA1 mutations and spinal arteriovenous anomalies. AJNR Am J Neuroradiol 2010; 31: 775-779.
8. Boyden LM, Orme CM, Antaya RJ, et al. Capillary malformation- arteriovenous malformation syndrome: identification of a family with a novel mutation. J Am Acad Dermatol 2012; 67: e287-e289.
9. Wooderchak-Donahue W, Stevenson DA, McDonald J, et al. RASA1 analysis: clinical and molecular findings in a series of consecutive cases. Eur J Med Genet 2012; 55: 91-95.
10. Brouillard P, Boon LM, Mulliken JB, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (" glomangiomas"). Am J Hum Genet 2002; 70: 866-874.
11. 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.
12. Pagenstecher A, Stahl S, Sure U, et al. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet 2009; 18: 911-918.
13. Akers AL, Johnson E, Steinberg GK, et al. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet 2009; 18: 919-930.
14. Limaye N, Boon LM, Vikkula M,. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 2009; 18: R65-R74.
15. Glanzer JG, Liao L, Baker T, et al. Organization and regulation of the human rasGAP gene. Gene 2002; 285: 149-156.
16. Meadows KN, Bryant P, Vincent PA, et al. Activated Ras induces a proangiogenic phenotype in primary endothelial cells. Oncogene 2004; 23: 192-200.
17. Ferrara N, Carver-Moore K, Chen H, et al. Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene. Nature 1996; 380: 439-442.
18. Herbert SP, Stainier DY,. Molecular control of endothelial cell behaviour during blood vessel morphogenesis. Nat Rev Mol Cell Biol 2011; 12: 551-564.
19. Serban D, Leng J, Cheresh D,. H-ras regulates angiogenesis and vascular permeability by activation of distinct downstream effectors. Circ Res 2008; 102: 1350-1358.
20. Kranenburg O, Gebbink MF, Voest EE,. Stimulation of angiogenesis by Ras proteins. Biochim Biophys Acta 2004; 1654: 23-37.
21. Henkemeyer M, Rossi DJ, Holmyard DP, et al. Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein. Nature 1995; 377: 695-701.
22. Kunath T, Gish G, Lickert H, et al. Transgenic RNA interference in ES cell-derived embryos recapitulates a genetic null phenotype. Nat Biotechnol 2003; 21: 559-561.
23. Lapinski PE, Bauler TJ, Brown EJ, et al. Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein. Genesis 2007; 45: 762-767.
24. Anand S, Majeti BK, Acevedo LM, et al. MicroRNA-132-mediated loss of p120RasGAP activates the endothelium to facilitate pathological angiogenesis. Nat Med 2010; 16: 909-914.
25. Lapinski PE, Kwon S, Lubeck BA, et al. RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice. J Clin Invest 2012; 122: 733-747.
26. Tomar A, Lim ST, Lim Y, et al. A FAK-p120RasGAP-p190RhoGAP complex regulates polarity in migrating cells. J Cell Sci 2009; 122: 1852-1862.
27. Kulkarni SV, Gish G, van der Geer P, et al. Role of p120 Ras-GAP in directed cell movement. J Cell Biol 2000; 149: 457-470.
28. Mai A, Veltel S, Pellinen T, et al. Competitive binding of Rab21 and p120RasGAP to integrins regulates receptor traffic and migration. J Cell Biol 2011; 194: 291-306.
29. Brunetti-Pierri N, Seidel GF, Levy ML, et al. Parkes Weber syndrome occurring in a family with capillary malformations. Clin Dysmorphol 2007; 16: 167-171.
30. Chee D, Phillips R, Maixner W, et al. The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. J Pediatr Surg 2010; 45: 2419-2422.
31. Walcott BP, Smith ER, Scott RM, et al. Pial arteriovenous fistulae in pediatric patients: associated syndromes and treatment outcome. J Neurointerv Surg 2012; 5: 10-14.
32. Greene AK, Orbach DB,. Management of arteriovenous malformations. Clin Plast Surg 2011; 38: 95-106.
33. Ogilvy CS, Stieg PE, Awad I, et al. Recommendations for the management of intracranial arteriovenous malformations. Stroke 2001; 32: 1458-1471.