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Venous malformation(VM)

MedGen UID:
754284
Concept ID:
C2937220
Congenital Abnormality
Synonym: VM
SNOMED CT: Congenital anomaly of vein (297222002); Congenital abnormality of vein (297222002)
 
HPO: HP:0012721

Definition

A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. [from HPO]

Conditions with this feature

Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Multiple cutaneous and mucosal venous malformations
MedGen UID:
325026
Concept ID:
C1838437
Congenital Abnormality
The condition multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and/or mucosal venous malformations. They are usually present at birth. New lesions appear with time. Small lesions are usually asymptomatic; larger lesions can invade subcutaneous muscle and cause pain. Malignant transformation has not been reported.
CLAPO syndrome
MedGen UID:
416522
Concept ID:
C2751313
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
CLOVES syndrome
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.

Professional guidelines

PubMed

Wang H, Xie C, Lin W, Wang P, Yang W, Guo Z
Orphanet J Rare Dis 2023 Nov 7;18(1):347. doi: 10.1186/s13023-023-02961-6. PMID: 37936141Free PMC Article
Budge EJ, Khalil Allam MA, Mechie I, Scully M, Agu O, Lim CS
Phlebology 2021 Jun;36(5):361-374. Epub 2020 Dec 6 doi: 10.1177/0268355520972918. PMID: 33283636
Wittens C, Davies AH, Bækgaard N, Broholm R, Cavezzi A, Chastanet S, de Wolf M, Eggen C, Giannoukas A, Gohel M, Kakkos S, Lawson J, Noppeney T, Onida S, Pittaluga P, Thomis S, Toonder I, Vuylsteke M, Esvs Guidelines Committee, Kolh P, de Borst GJ, Chakfé N, Debus S, Hinchliffe R, Koncar I, Lindholt J, de Ceniga MV, Vermassen F, Verzini F, Document Reviewers, De Maeseneer MG, Blomgren L, Hartung O, Kalodiki E, Korten E, Lugli M, Naylor R, Nicolini P, Rosales A
Eur J Vasc Endovasc Surg 2015 Jun;49(6):678-737. Epub 2015 Apr 25 doi: 10.1016/j.ejvs.2015.02.007. PMID: 25920631

Recent clinical studies

Therapy

Kim KR
Tech Vasc Interv Radiol 2024 Jun;27(2):100960. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100960. PMID: 39168545
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Johnson AB, Richter GT
Tech Vasc Interv Radiol 2019 Dec;22(4):100635. Epub 2019 Sep 25 doi: 10.1016/j.tvir.2019.100635. PMID: 31864534
Hoff SR, Rastatter JC, Richter GT
Otolaryngol Clin North Am 2015 Feb;48(1):29-45. doi: 10.1016/j.otc.2014.09.004. PMID: 25439548
Rabe E, Pannier F
Phlebology 2013 Mar;28 Suppl 1:188-91. doi: 10.1177/0268355513477282. PMID: 23482557

Prognosis

Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Foley LS, Kulungowski AM
Adv Pediatr 2015 Aug;62(1):227-55. doi: 10.1016/j.yapd.2015.04.009. PMID: 26205116
Wittens C, Davies AH, Bækgaard N, Broholm R, Cavezzi A, Chastanet S, de Wolf M, Eggen C, Giannoukas A, Gohel M, Kakkos S, Lawson J, Noppeney T, Onida S, Pittaluga P, Thomis S, Toonder I, Vuylsteke M, Esvs Guidelines Committee, Kolh P, de Borst GJ, Chakfé N, Debus S, Hinchliffe R, Koncar I, Lindholt J, de Ceniga MV, Vermassen F, Verzini F, Document Reviewers, De Maeseneer MG, Blomgren L, Hartung O, Kalodiki E, Korten E, Lugli M, Naylor R, Nicolini P, Rosales A
Eur J Vasc Endovasc Surg 2015 Jun;49(6):678-737. Epub 2015 Apr 25 doi: 10.1016/j.ejvs.2015.02.007. PMID: 25920631
Hoff SR, Rastatter JC, Richter GT
Otolaryngol Clin North Am 2015 Feb;48(1):29-45. doi: 10.1016/j.otc.2014.09.004. PMID: 25439548
Lee BB
Phlebology 2013 Mar;28 Suppl 1:176-87. doi: 10.1177/0268355513475960. PMID: 23482556

Clinical prediction guides

Wang H, Lin W, Xie C, Yang W, Zhou J, Guo Z
Orphanet J Rare Dis 2023 Sep 12;18(1):288. doi: 10.1186/s13023-023-02857-5. PMID: 37700367Free PMC Article
Custer PL, Ho TC, Boulos F
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):58-63. Epub 2022 Jul 4 doi: 10.1097/IOP.0000000000002241. PMID: 35793665
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Schonning MJ, Koh S, Sun RW, Richter GT, Edwards AK, Shawber CJ, Wu JK
PLoS One 2021;16(5):e0252342. Epub 2021 May 27 doi: 10.1371/journal.pone.0252342. PMID: 34043714Free PMC Article
Wittens C, Davies AH, Bækgaard N, Broholm R, Cavezzi A, Chastanet S, de Wolf M, Eggen C, Giannoukas A, Gohel M, Kakkos S, Lawson J, Noppeney T, Onida S, Pittaluga P, Thomis S, Toonder I, Vuylsteke M, Esvs Guidelines Committee, Kolh P, de Borst GJ, Chakfé N, Debus S, Hinchliffe R, Koncar I, Lindholt J, de Ceniga MV, Vermassen F, Verzini F, Document Reviewers, De Maeseneer MG, Blomgren L, Hartung O, Kalodiki E, Korten E, Lugli M, Naylor R, Nicolini P, Rosales A
Eur J Vasc Endovasc Surg 2015 Jun;49(6):678-737. Epub 2015 Apr 25 doi: 10.1016/j.ejvs.2015.02.007. PMID: 25920631

Recent systematic reviews

Cao J, Liu J, Zhang X, Wang Z
J Vasc Surg Venous Lymphat Disord 2023 Jan;11(1):210-218.e3. Epub 2022 Sep 28 doi: 10.1016/j.jvsv.2022.08.004. PMID: 36179784
D'Amico A, Tinari S, D'Antonio F, Rizzo G, Liberati M, Vasciaveo L, Buca D
J Matern Fetal Neonatal Med 2022 Dec;35(25):5312-5317. Epub 2021 Jan 28 doi: 10.1080/14767058.2021.1878494. PMID: 33508985
Wong XL, Phan K, Rodríguez Bandera AI, Sebaratnam DF
J Paediatr Child Health 2019 Feb;55(2):152-155. Epub 2018 Dec 18 doi: 10.1111/jpc.14345. PMID: 30565378
Asdahl KR, Hedelund L, Keller J, Baad-Hansen T, Damsgaard T
Cardiovasc Intervent Radiol 2018 Aug;41(8):1141-1151. Epub 2018 Feb 28 doi: 10.1007/s00270-018-1919-y. PMID: 29492631
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883

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