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Genetic and Rare Diseases Information Center (GARD)

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Parkes Weber syndrome


Other Names for this Disease
  • Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb
  • PKWS
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Overview



What is Parkes Weber syndrome?

How might Parkes Weber syndrome be treated?


What is Parkes Weber syndrome?

Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs.[1] There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene[2] and are inherited in an autosomal dominant manner.[3] Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.[3]
Last updated: 6/9/2011

How might Parkes Weber syndrome be treated?

For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist.[3]

Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.[1]
Last updated: 6/9/2011

References
  1. Parkes Weber syndrome. Children's Hospital Boston. 2011; http://childrenshospital.org/az/Site2919/mainpageS2919P1.html. Accessed 6/8/2011.
  2. Victor A. McKusick . Parkes Weber syndrome. OMIM. December 19, 2003; http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355. Accessed 6/8/2011.
  3. Pinar Bayrak-Toydemir, David Stevenson. RASA1-Related Disorders. GeneReviews. February 22, 2011; http://www.ncbi.nlm.nih.gov/books/NBK52764/. Accessed 6/9/2011.