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Cutaneous Arteriovenous Malformation/Hemangioma

MedGen UID:
1779412
•Concept ID:
C5444799
•
Congenital Abnormality
Synonyms: Acral Arteriovenous Tumor; Cirsoid Aneurysm; Cutaneous Arteriovenous Malformation; Cutaneous AVM/H

Definition

A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the skin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous Arteriovenous Malformation/Hemangioma

Professional guidelines

PubMed

Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies.
Liu J, Duan X, Yin J, Yang H, He R, Zhao S
Orphanet J Rare Dis 2023 May 24;18(1):124. doi: 10.1186/s13023-023-02732-3. PMID: 37226169Free PMC Article
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296
Laser treatment of benign cutaneous vascular lesions.
Alster T, Tan OT
Am Fam Physician 1991 Aug;44(2):547-54. PMID: 1858611

Recent clinical studies

Etiology

Autonomous diagnosis of pediatric cutaneous vascular anomalies using a convolutional neural network.
Patel P, Ragland K, Robertson B, Ragusa G, Wiley C, Miller J, Jullens R, Dunham M, Richter G
Int J Pediatr Otorhinolaryngol 2022 May;156:111096. Epub 2022 Mar 18 doi: 10.1016/j.ijporl.2022.111096. PMID: 35334238
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296
Treating vascular lesions.
Astner S, Anderson RR
Dermatol Ther 2005 May-Jun;18(3):267-81. doi: 10.1111/j.1529-8019.2005.05025.x. PMID: 16229727
Strokes in children.
Shillito J Jr
Clin Neurosurg 1976;23:185-219. doi: 10.1093/neurosurgery/23.cn_suppl_1.185. PMID: 989745

Diagnosis

Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
Sudduth CL, McGuire AM, Smits PJ, Konczyk DJ, Al-Ibraheemi A, Fishman SJ, Greene AK
Clin Genet 2020 Dec;98(6):595-597. Epub 2020 Sep 2 doi: 10.1111/cge.13833. PMID: 32799314Free PMC Article
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Blue bleb rubber nevus syndrome.
Ballieux F, Boon LM, Vikkula M
Handb Clin Neurol 2015;132:223-30. doi: 10.1016/B978-0-444-62702-5.00016-0. PMID: 26564083
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296
Treating vascular lesions.
Astner S, Anderson RR
Dermatol Ther 2005 May-Jun;18(3):267-81. doi: 10.1111/j.1529-8019.2005.05025.x. PMID: 16229727

Therapy

Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296
The horizon for treating cutaneous vascular lesions.
Patel AM, Chou EL, Findeiss L, Kelly KM
Semin Cutan Med Surg 2012 Jun;31(2):98-104. doi: 10.1016/j.sder.2012.02.001. PMID: 22640429Free PMC Article
PHACES syndrome: otolaryngic considerations in recognition and management.
Rudnick EF, Chen EY, Manning SC, Perkins JA
Int J Pediatr Otorhinolaryngol 2009 Feb;73(2):281-8. Epub 2008 Dec 9 doi: 10.1016/j.ijporl.2008.10.018. PMID: 19081148
Pediatric cervicofacial tissue expansion.
Hurvitz KA, Rosen H, Meara JG
Int J Pediatr Otorhinolaryngol 2005 Nov;69(11):1509-13. doi: 10.1016/j.ijporl.2005.04.006. PMID: 15908016

Prognosis

Arteriovenous Malformations of the Temporalis Muscle: A Comprehensive Review.
Ros de San Pedro J, Cuartero Pérez B, Ferri Ñíguez B, Villanueva San Vicente V
Oper Neurosurg (Hagerstown) 2018 Apr 1;14(4):325-340. doi: 10.1093/ons/opx149. PMID: 28973431
Vascular malformations. Part II: associated syndromes.
Garzon MC, Huang JT, Enjolras O, Frieden IJ
J Am Acad Dermatol 2007 Apr;56(4):541-64. doi: 10.1016/j.jaad.2006.05.066. PMID: 17367610
Vascular malformations: Part I.
Garzon MC, Huang JT, Enjolras O, Frieden IJ
J Am Acad Dermatol 2007 Mar;56(3):353-70; quiz 371-4. doi: 10.1016/j.jaad.2006.05.069. PMID: 17317485
Treating vascular lesions.
Astner S, Anderson RR
Dermatol Ther 2005 May-Jun;18(3):267-81. doi: 10.1111/j.1529-8019.2005.05025.x. PMID: 16229727
Cutaneous vascular lesions.
Spring MA, Bentz ML
Clin Plast Surg 2005 Apr;32(2):171-86. doi: 10.1016/j.cps.2004.11.004. PMID: 15814115

Clinical prediction guides

Expression of smoothelin and smooth muscle actin in the skin.
Aneiros-Fernández J, Husein-ElAhmed H, Arias-Santiago S, Campos A, Carriel V, Sánchez-Montesinos I, Garcia del Moral R, Sánchez G, O'Valle F, Aneiros J
Histol Histopathol 2011 Jun;26(6):673-8. doi: 10.14670/HH-26.673. PMID: 21472682
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.
Chee D, Phillips R, Maixner W, Southwell BR, Hutson JM
J Pediatr Surg 2010 Dec;45(12):2419-22. doi: 10.1016/j.jpedsurg.2010.08.043. PMID: 21129558
Cutaneous vascular lesions.
Spring MA, Bentz ML
Clin Plast Surg 2005 Apr;32(2):171-86. doi: 10.1016/j.cps.2004.11.004. PMID: 15814115
Tissue response to N-butyl-2-cyanoacrylate after percutaneous injection into cutaneous vascular lesions.
Canter HI, Vargel I, Mavlll ME, Gököz A, Erk Y
Ann Plast Surg 2002 Nov;49(5):520-6. doi: 10.1097/00000637-200211000-00013. PMID: 12439021
A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL
Genomics 1995 Jul 20;28(2):311-4. doi: 10.1006/geno.1995.1147. PMID: 8530042

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