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Capillary malformation-arteriovenous malformation syndrome(CMAVM)

MedGen UID:
334007
•Concept ID:
C1842180
•
Disease or Syndrome
Synonym: Capillary malformation-arteriovenous malformation
SNOMED CT: Capillary malformation-arteriovenous malformation syndrome (703533007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Gene (location): EPHB4 (7q22.1)
 
Monarch Initiative: MONDO:0012016
OMIM®: 608354
OMIM® Phenotypic series: PS608354
Orphanet: ORPHA137667

Disease characteristics

Excerpted from the GeneReview: Capillary Malformation-Arteriovenous Malformation Syndrome
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]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Pinar Bayrak-Toydemir  |  David A Stevenson   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCapillary malformation-arteriovenous malformation syndrome
Follow this link to review classifications for Capillary malformation-arteriovenous malformation syndrome in Orphanet.

Professional guidelines

PubMed

Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA
Pediatr Dermatol 2013 Jul-Aug;30(4):409-15. Epub 2013 May 13 doi: 10.1111/pde.12112. PMID: 23662773

Recent clinical studies

Etiology

RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y
Radiographics 2024 May;44(5):e230153. doi: 10.1148/rg.230153. PMID: 38602868
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis.
Eisa-Beygi S, Vo NJ, Link BA
Drug Discov Today 2021 Aug;26(8):1790-1793. Epub 2020 Dec 24 doi: 10.1016/j.drudis.2020.12.012. PMID: 33358701
A review of craniofacial and dental findings of the RASopathies.
Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S
Orthod Craniofac Res 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144. PMID: 28643916Free PMC Article
The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Misdiagnosis of capillary malformations in darker skin phototypes.
Nriagu BN, Sanders VR, Bercovitch L, Snyder K, Cross EA, Treat JR, Sheppard SE
Pediatr Dermatol 2021 Nov;38 Suppl 2(Suppl 2):137-139. Epub 2021 Sep 28 doi: 10.1111/pde.14787. PMID: 34585435Free PMC Article
Role of colour-Doppler high-frequency ultrasonography in capillary malformation-arteriovenous malformation syndrome: a case series.
Rodríguez Bandera AI, Feito Rodríguez M, Chiloeches Fernández C, Stewart N, Valdivielso-Ramos M
Australas J Dermatol 2020 Nov;61(4):349-352. Epub 2020 May 3 doi: 10.1111/ajd.13311. PMID: 32363619
Capillary Malformation-Arteriovenous Malformation Syndrome.
Sibley CD, Ramien ML
JAMA Dermatol 2019 Jun 1;155(6):733. doi: 10.1001/jamadermatol.2019.0319. PMID: 31017636
Multifocal vascular lesions.
Levin LE, Lauren CT
Semin Cutan Med Surg 2016 Sep;35(3):153-60. doi: 10.12788/j.sder.2016.054. PMID: 27607324

Therapy

Good response to pulsed dye laser in patients with capillary malformation-arteriovenous malformation syndrome (CM-AVM).
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
Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
Plumptre I, Robertson F, Rennie A, James G, Syed SB
Pediatr Dermatol 2020 Jan;37(1):162-164. Epub 2019 Nov 20 doi: 10.1111/pde.14029. PMID: 31746477

Prognosis

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
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
Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
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
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
Gandon C, Bonniaud B, Collet E, Dalac S, Jeudy G, Vabres P
Pediatr Dermatol 2016 Sep;33(5):e337-41. Epub 2016 Aug 2 doi: 10.1111/pde.12937. PMID: 27480194
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Grillner P, Söderman M, Holmin S, Rodesch G
Childs Nerv Syst 2016 Apr;32(4):709-15. Epub 2015 Oct 24 doi: 10.1007/s00381-015-2940-y. PMID: 26499346
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

Clinical prediction guides

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
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
Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Boccara O, Mazereeuw J, Martin L, Bessis D, Hubiche T, Chiaverini C, Dompmartin A, Mallet S, Miquel J, Aubert H, Puzenat E, Abasq C, Gusdorf L, Hadj-Rabia S, Maruani A; Groupe de Recherche Clinique de Dermatologie Pédiatrique (GRDP,); Filière Maladies rares Dermatologiques (FIMARAD)
J Am Acad Dermatol 2022 Oct;87(4):914-916. Epub 2021 Dec 24 doi: 10.1016/j.jaad.2021.12.030. PMID: 34954287
Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
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
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
Gandon C, Bonniaud B, Collet E, Dalac S, Jeudy G, Vabres P
Pediatr Dermatol 2016 Sep;33(5):e337-41. Epub 2016 Aug 2 doi: 10.1111/pde.12937. PMID: 27480194
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.
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

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