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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
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Recent clinical studies

Etiology

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
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
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
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

Diagnosis

Kumar V, Jorwal P, Biswas A, Deorari V
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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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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
Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, Fife CE, Kwon S, Lapinski PE, King PD, Sevick-Muraca EM
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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
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
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
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Clinical prediction guides

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
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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
Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, Fife CE, Kwon S, Lapinski PE, King PD, Sevick-Muraca EM
Proc Natl Acad Sci U S A 2013 May 21;110(21):8621-6. Epub 2013 May 6 doi: 10.1073/pnas.1222722110. PMID: 23650393Free PMC Article
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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