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Parkes Weber syndrome(PKWS)

MedGen UID:
1808056
Concept ID:
C5574870
Disease or Syndrome
Synonyms: Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb; Parkes Weber Syndrome, RASA1-Related; PKWS
SNOMED CT: Parkes Weber syndrome (234143003)

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 MedlinePlus Genetics
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.

Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), which are present from birth. The capillary malformations increase blood flow near the surface of the skin. They usually look like large, flat, pink stains on the skin, and because of their color are sometimes called "port-wine stains." In people with Parkes Weber syndrome, capillary malformations occur together with multiple micro-AVFs, which are tiny abnormal connections between arteries and veins that affect blood circulation. These AVFs can be associated with life-threatening complications including abnormal bleeding and heart failure.

Another characteristic feature of Parkes Weber syndrome is overgrowth of one limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues, making one of the limbs longer and larger around than the corresponding one.

Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.  https://medlineplus.gov/genetics/condition/parkes-weber-syndrome

Professional guidelines

PubMed

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
Redondo P, Aguado L, Martínez-Cuesta A
J Am Acad Dermatol 2011 Nov;65(5):893-906; quiz 907-8. doi: 10.1016/j.jaad.2010.12.047. PMID: 22000870
Schook CC, Mulliken JB, Fishman SJ, Alomari AI, Grant FD, Greene AK
Plast Reconstr Surg 2011 Apr;127(4):1571-1581. doi: 10.1097/PRS.0b013e31820a64f3. PMID: 21187804

Recent clinical studies

Etiology

Conway AM, Qato K, Nguyen Tran NT, Short H, Giangola G, Carroccio A, Rosen RJ
Ann Vasc Surg 2020 Nov;69:224-231. Epub 2020 May 29 doi: 10.1016/j.avsg.2020.05.039. PMID: 32479884
Johnson CM, Navarro OM
Pediatr Radiol 2017 Aug;47(9):1196-1208. Epub 2017 Aug 4 doi: 10.1007/s00247-017-3906-x. PMID: 28779187
Li ZF, Li Q, Xu Y, Hong B, Huang QH, Liu JM
World Neurosurg 2017 Nov;107:1043.e7-1043.e13. Epub 2017 Jun 20 doi: 10.1016/j.wneu.2017.06.080. PMID: 28645597
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
Nathan N, Thaller SR
J Craniofac Surg 2006 Jul;17(4):724-8. doi: 10.1097/00001665-200607000-00024. PMID: 16877925

Diagnosis

Kumar V, Jorwal P, Biswas A, Deorari V
QJM 2019 Dec 1;112(12):936. doi: 10.1093/qjmed/hcz101. PMID: 31086946
Bertino F, Braithwaite KA, Hawkins CM, Gill AE, Briones MA, Swerdlin R, Milla SS
Radiographics 2019 Mar-Apr;39(2):491-515. doi: 10.1148/rg.2019180136. PMID: 30844349
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
Kirkorian AY, Grossberg AL, Püttgen KB
Semin Cutan Med Surg 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051. PMID: 27607321
Manresa-Manresa F, Iribarren-Marín MA, Gómez-Ruiz FT
Rev Esp Cardiol (Engl Ed) 2015 Jan;68(1):67. Epub 2014 Jun 27 doi: 10.1016/j.rec.2014.02.022. PMID: 25553944

Therapy

Conway AM, Qato K, Nguyen Tran NT, Short H, Giangola G, Carroccio A, Rosen RJ
Ann Vasc Surg 2020 Nov;69:224-231. Epub 2020 May 29 doi: 10.1016/j.avsg.2020.05.039. PMID: 32479884
Conway AM, Qato K, Nguyen Tran NT, Short H, Giangola G, Rosen RJ, Carroccio A
Ann Vasc Surg 2020 Oct;68:201-208. Epub 2020 May 18 doi: 10.1016/j.avsg.2020.04.058. PMID: 32439531
Redondo P, Aguado L, Martínez-Cuesta A
J Am Acad Dermatol 2011 Nov;65(5):909-23; quiz 924. doi: 10.1016/j.jaad.2011.03.009. PMID: 22000871
Cohen MM Jr
Am J Med Genet A 2006 Oct 1;140(19):2013-38. doi: 10.1002/ajmg.a.31333. PMID: 16958055
Ziyeh S, Spreer J, Rössler J, Strecker R, Hochmuth A, Schumacher M, Klisch J
Eur Radiol 2004 Nov;14(11):2025-9. Epub 2004 Mar 6 doi: 10.1007/s00330-004-2274-8. PMID: 15007616

Prognosis

Bernhard SM, Tuleja A, Laine JE, Haupt F, Häberli D, Hügel U, Rössler J, Schindewolf M, Baumgartner I
J Vasc Surg Venous Lymphat Disord 2022 May;10(3):705-712. Epub 2021 Oct 11 doi: 10.1016/j.jvsv.2021.10.002. PMID: 34649003
Li ZF, Li Q, Xu Y, Hong B, Huang QH, Liu JM
World Neurosurg 2017 Nov;107:1043.e7-1043.e13. Epub 2017 Jun 20 doi: 10.1016/j.wneu.2017.06.080. PMID: 28645597
Girón-Vallejo O, López-Gutiérrez JC, Fernández-Pineda I
Ann Vasc Surg 2013 Aug;27(6):820-5. doi: 10.1016/j.avsg.2013.01.001. PMID: 23880459
Nathan N, Thaller SR
J Craniofac Surg 2006 Jul;17(4):724-8. doi: 10.1097/00001665-200607000-00024. PMID: 16877925
You CK, Rees J, Gillis DA, Steeves J
Can J Surg 1983 Sep;26(5):399-403. PMID: 6311389

Clinical prediction guides

Giucă A, Răileanu V, Capșa R, Popescu BA, Jurcuț R
Int J Cardiovasc Imaging 2021 Jul;37(7):2171-2173. Epub 2021 Feb 15 doi: 10.1007/s10554-021-02185-4. PMID: 33590431
Li ZF, Li Q, Xu Y, Hong B, Huang QH, Liu JM
World Neurosurg 2017 Nov;107:1043.e7-1043.e13. Epub 2017 Jun 20 doi: 10.1016/j.wneu.2017.06.080. PMID: 28645597
Bojakowski K, Janusz G, Grabowska I, Zegrocka-Stendel O, Surowiecka-Pastewka A, Kowalewska M, Maciejko D, Koziak K
PLoS One 2015;10(7):e0133752. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133752. PMID: 26217941Free PMC Article
Girón-Vallejo O, López-Gutiérrez JC, Fernández-Pineda I
Ann Vasc Surg 2013 Aug;27(6):820-5. doi: 10.1016/j.avsg.2013.01.001. PMID: 23880459
Brouillard P, Vikkula M
Hum Mol Genet 2007 Oct 15;16 Spec No. 2:R140-9. Epub 2007 Jul 31 doi: 10.1093/hmg/ddm211. PMID: 17670762

Recent systematic reviews

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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