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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

Kang M, Connor DE, Parsi K
Phlebology 2022 Jun;37(5):367-380. Epub 2022 Mar 28 doi: 10.1177/02683555221080045. PMID: 35344460
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
Kumar R, Sharma G, Sharma BS
Br J Neurosurg 2012 Jun;26(3):371-7. Epub 2012 Feb 13 doi: 10.3109/02688697.2012.654838. PMID: 22329441

Recent clinical studies

Etiology

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
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
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee
Pediatrics 2015 Jul;136(1):e203-14. Epub 2015 Jun 8 doi: 10.1542/peds.2014-3673. PMID: 26055853
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

Diagnosis

Dorrity J, Mack J, Wong K, Richter GT
J Oral Pathol Med 2022 Nov;51(10):860-871. Epub 2022 Jul 25 doi: 10.1111/jop.13322. PMID: 35674677
Colletti G, Ierardi AM
Med Oncol 2017 Mar;34(3):42. Epub 2017 Feb 8 doi: 10.1007/s12032-017-0896-3. PMID: 28181207
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee
Pediatrics 2015 Jul;136(1):e203-14. Epub 2015 Jun 8 doi: 10.1542/peds.2014-3673. PMID: 26055853
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Jan;44(1):5-22. doi: 10.1024/0301-1526/a000402. PMID: 25537054
Kamaya A, Shin L, Chen B, Desser TS
Semin Ultrasound CT MR 2008 Oct;29(5):353-68. doi: 10.1053/j.sult.2008.06.006. PMID: 18853841

Therapy

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
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
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
Teusch VI, Wohlgemuth WA, Hammer S, Piehler AP, Müller-Wille R, Goessmann H, Uller W
AJR Am J Roentgenol 2017 Dec;209(6):1390-1395. Epub 2017 Sep 20 doi: 10.2214/AJR.16.17603. PMID: 28929808
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

Prognosis

Dorrity J, Mack J, Wong K, Richter GT
J Oral Pathol Med 2022 Nov;51(10):860-871. Epub 2022 Jul 25 doi: 10.1111/jop.13322. PMID: 35674677
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
Du Z, Zheng J, Zhang Z, Wang Y
J Vasc Surg Venous Lymphat Disord 2017 Sep;5(5):740-748. Epub 2017 May 16 doi: 10.1016/j.jvsv.2017.05.001. PMID: 28818232
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

Clinical prediction guides

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
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
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
Yadav P, De Castro DK, Waner M, Meyer L, Fay A
Semin Ophthalmol 2013 Sep-Nov;28(5-6):257-66. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825279. PMID: 24010650

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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