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Capillary malformation-arteriovenous malformation 2(CMAVM2)

MedGen UID:
1648502
Concept ID:
C4748670
Disease or Syndrome
Synonym: CMAVM2
 
Gene (location): EPHB4 (7q22.1)
 
Monarch Initiative: MONDO:0020785
OMIM®: 618196

Disease characteristics

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb). [from GeneReviews]
Authors:
Pinar Bayrak-Toydemir  |  David A Stevenson   view full author information

Additional description

From OMIM
Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients (Amyere et al., 2017). For a discussion of genetic heterogeneity of CMAVM, see 608354.  http://www.omim.org/entry/618196

Clinical features

From HPO
Vein of Galen aneurysmal malformation
MedGen UID:
140912
Concept ID:
C0431420
Disease or Syndrome
Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Capillary malformation
MedGen UID:
90955
Concept ID:
C0340803
Congenital Abnormality
A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).

Recent clinical studies

Etiology

Engel ER, Wusik K, Bright P, Vadivelu S, Taylor JM, Hammill A
J Pediatr 2024 Jan;264:113761. Epub 2023 Oct 4 doi: 10.1016/j.jpeds.2023.113761. PMID: 37797790
Mologousis MA, Ostertag-Hill CA, Haimes H, Fishman SJ, Mulliken JB, Liang MG
Pediatr Dermatol 2023 Nov-Dec;40(6):1028-1034. Epub 2023 Sep 28 doi: 10.1111/pde.15443. PMID: 37767822
Brix ATH, Tørring PM, Bygum A
Acta Derm Venereol 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126. PMID: 35088870Free PMC Article
Say M, Tella E, Boccara O, Sauvage M, Bourrat E, Tian Y, Monfort JB, Lok C, Desierier F, Beneton N, Abasq-Thomas C, Kupfer-Bessaguet I, Mallet S, Lacour JP, Plantin P, Sigal ML, Mazereeuw-Hautier J, Mahé E; on behalf the Angio-Dermatology Group of the French Society of Dermatology, the Research Group of the French Society of Pediatric Dermatology
Ann Dermatol Venereol 2022 Mar;149(1):51-55. Epub 2021 Jul 1 doi: 10.1016/j.annder.2021.05.004. PMID: 34218940
Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás JA
Br J Dermatol 2015 Feb;172(2):450-4. Epub 2014 Dec 11 doi: 10.1111/bjd.13287. PMID: 25059281

Diagnosis

Mologousis MA, Ostertag-Hill CA, Haimes H, Fishman SJ, Mulliken JB, Liang MG
Pediatr Dermatol 2023 Nov-Dec;40(6):1028-1034. Epub 2023 Sep 28 doi: 10.1111/pde.15443. PMID: 37767822
Brix ATH, Tørring PM, Bygum A
Acta Derm Venereol 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126. PMID: 35088870Free PMC Article
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M
Circulation 2017 Sep 12;136(11):1037-1048. Epub 2017 Jul 7 doi: 10.1161/CIRCULATIONAHA.116.026886. PMID: 28687708
Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás JA
Br J Dermatol 2015 Feb;172(2):450-4. Epub 2014 Dec 11 doi: 10.1111/bjd.13287. PMID: 25059281

Therapy

Iznardo H, Roé E, Puig L, Vikula M, López-Sánchez C, Baselga E
Pediatr Dermatol 2020 Mar;37(2):342-344. Epub 2020 Jan 15 doi: 10.1111/pde.14095. PMID: 31944370

Prognosis

Engel ER, Wusik K, Bright P, Vadivelu S, Taylor JM, Hammill A
J Pediatr 2024 Jan;264:113761. Epub 2023 Oct 4 doi: 10.1016/j.jpeds.2023.113761. PMID: 37797790
Say M, Tella E, Boccara O, Sauvage M, Bourrat E, Tian Y, Monfort JB, Lok C, Desierier F, Beneton N, Abasq-Thomas C, Kupfer-Bessaguet I, Mallet S, Lacour JP, Plantin P, Sigal ML, Mazereeuw-Hautier J, Mahé E; on behalf the Angio-Dermatology Group of the French Society of Dermatology, the Research Group of the French Society of Pediatric Dermatology
Ann Dermatol Venereol 2022 Mar;149(1):51-55. Epub 2021 Jul 1 doi: 10.1016/j.annder.2021.05.004. PMID: 34218940
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Walcott BP, Smith ER, Scott RM, Orbach DB
J Neurointerv Surg 2013 Jan 1;5(1):10-4. Epub 2012 Jan 2 doi: 10.1136/neurintsurg-2011-010168. PMID: 22213836

Clinical prediction guides

Engel ER, Wusik K, Bright P, Vadivelu S, Taylor JM, Hammill A
J Pediatr 2024 Jan;264:113761. Epub 2023 Oct 4 doi: 10.1016/j.jpeds.2023.113761. PMID: 37797790
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Saliou G, Eyries M, Iacobucci M, Knebel JF, Waill MC, Coulet F, Ozanne A, Soubrier F
Ann Neurol 2017 Dec;82(6):972-980. Epub 2017 Dec 12 doi: 10.1002/ana.25106. PMID: 29171923
Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás JA
Br J Dermatol 2015 Feb;172(2):450-4. Epub 2014 Dec 11 doi: 10.1111/bjd.13287. PMID: 25059281
Whitehead KJ, Smith MC, Li DY
Cold Spring Harb Perspect Med 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635. PMID: 23125071Free PMC Article

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