Parkes Weber's Syndrome

Authored by Dr Naomi Hartree, 23 May 2011

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The terms Klippel-Trénaunay-Weber syndrome and Klippel-Trénaunay-Parkes Weber syndrome have sometimes been used synonymously with Parkes Weber's syndrome (PWS). However, current usage favours the term Parkes Weber's syndrome. Note that Klippel-Trénaunay syndrome (without the 'Parkes' or 'Weber') is a separate condition (limb overgrowth and a slow-flowing vascular malformation without significant AVFs - clinically different from PWS).[1, 2]

Parkes Weber's syndrome (PWS) is vascular malformation comprising:

  • A capillary arteriovenous malformation, manifest as a visible red skin lesion.
  • Arteriovenous fistulae (AVFs).
  • Lymphoedema.
  • Overgrowth of a limb.

PWS is classified as a complex combined vascular malformation.

  • Parkes Weber's syndrome (PWS) is rare.[5]
  • Most cases are sporadic, although familial cases have been reported.[3, 6]
  • A recent study suggests that PWS (and other capillary malformation-arteriovenous malformations) may be linked to mutations of the RASA1 gene.[7, 8]

Onset:

  • May present antenatally (on ultrasound), at birth, or may develop during childhood.

Clinical features in the affected limb:

  • A congenital, red or pink skin lesion (a 'geographical' red stain), which is a high-flow lesion.[11]
  • Limb enlargement - including muscle and bone hypertrophy, with an increase in limb length and girth. One case involving a shortened limb is reported.[12]
  • Signs of a vascular shunt in the affected limb, eg warmth; dilated veins; a thrill, bruit or pulsation.
  • Lymphoedema - localised or diffuse. Lymphatic vesicles may be visible in the skin.
  • May have limb pain, due to vessel enlargement.
  • In some cases, the skin lesions may bleed easily, eg on minor trauma.[11]
  • Distal skin changes in the limb (due to distal vascular steal), eg ischaemic ulcers, pigmentation and fibrosis.

The diagnosis can usually be made clinically, without the need for imaging. A bedside audible Doppler ultrasound can confirm vascular shunting.

Various imaging methods can be used to assess the extent of lesions:

  • Plain X-rays - show lytic bone lesions and limb-length discrepancy.
  • MRI scans - can show enlarged limb muscles and bones, the extent of the vascular lesion, and the high-flow nature of the vascular malformations.[9, 13, 14]
  • Catheter angiography is used in some cases.[15]
  • Klippel-Trénaunay syndrome (slow-flow capillary lesions without significant arteriovenous fistulae (AVFs)).
  • Other vascular malformations, eg port-wine stains[16] (tend to be purplish in colour rather than the pink-red stain found in Parkes Weber's syndrome (PWS)).
  • Other causes of lymphoedema.

Conservative management is preferred, if possible, since invasive treatment may worsen the arteriovenous fistulae (AVFs). Multidisciplinary care is often appropriate.

Conservative treatments:

  • Prevention of trauma (lifestyle modification, eg care with sporting activity) - since trauma may worsen the AVFs.
  • First aid advice for patients if they have lesions prone to bleeding - apply firm pressure and seek medical help.
  • Elastic hosiery to reduce lymphoedema and vascular steal.
  • Avoid laser treatment of the skin lesions - this can worsen the shunting through AVFs.

Orthopaedic care for the limb-length discrepancy:[4]

  • Monitor limb growth.
  • Treatment is conservative if possible.
  • Stapling epiphysiodesis (eg of the knee cartilages) may be performed to limit leg length, but the procedure may worsen the arterial venous malformation in the limb.

Vascular treatment:[17] This may be required if there are troublesome complications such as pain, ulceration or cardiac failure. Possible treatments are:

  • Arterial embolisation (but this procedure often fails to control the shunting in Parkes Weber's syndrome (PWS)).[3, 18, 19]
  • Surgical resection of the lesion may be possible in some cases.
  • Limb amputation may be required in some cases.[20]
  • Skin:
    • Cosmetic problems with the appearance of the lesions.
    • Some skin lesions may bleed easily, eg on minor trauma - patients need advice about first aid.
    • Ischaemic ulcers distal to the lesion.
    • Recurrent skin infections due to lymphoedema.
  • Cardiovascular:
  • Orthopaedic:

The deformity tends to progress with time; the affected limb continues to show increased growth until epiphyseal closure.

Further reading and references

  1. Roebuck DJ; Klippel-Trenaunay and Parkes-Weber syndromes. AJR Am J Roentgenol. 1997 Jul169(1):311-2.

  2. Meier S; Klippel-Trenaunay syndrome: a case study. Adv Neonatal Care. 2009 Jun9(3):120-4.

  3. Lobo-Mueller E, Amaral JG, Babyn PS, et al; Complex combined vascular malformations and vascular malformation syndromes Semin Musculoskelet Radiol. 2009 Sep13(3):255-76. Epub 2009 Sep 1.

  4. Enjolras O, Chapot R, Merland JJ; Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B. 2004 Nov13(6):349-57.

  5. Ninagawa J, Yamada Y; General anesthesia in a patient with Parkes Weber syndrome with high-output J Anesth. 2010 Apr24(2):256-9. Epub 2010 Feb 6.

  6. Courivaud D, Delerue A, Delerue C, et al; (Familial case of Parkes Weber syndrome). Ann Dermatol Venereol. 2006 May133(5 Pt 1):445-7.

  7. Revencu N, Boon LM, Mulliken JB, et al; Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow Hum Mutat. 2008 Jul29(7):959-65.

  8. Parkes Weber Syndrome, Online Mendelian Inheritance in Man (OMIM)

  9. Konez O et al; Vascular Anomalies, Medscape, Feb 2010

  10. McCarron JA et al; Evaluation and Treatment of Musculoskeletal Vascular Anomalies in Children: An Update and Summary for Orthopaedic Surgeons. The University of Pennsylvania Orthopaedic Journal 200114:15–24

  11. Capillary vascular malformation, DermNet NZ, 2004

  12. Fernandez-Pineda I, Lopez-Gutierrez JC; Parkes-Weber syndrome associated with a congenital short femur of the affected Ann Vasc Surg. 2009 Mar23(2):257.e1-2. Epub 2008 Oct 2.

  13. Konez O, Burrows PE; An appropriate diagnostic workup for suspected vascular birthmarks. Cleve Clin J Med. 2004 Jun71(6):505-10.

  14. Fayad LM, Hazirolan T, Bluemke D, et al; Vascular malformations in the extremities: emphasis on MR imaging features that Skeletal Radiol. 2006 Mar35(3):127-37. Epub 2006 Jan 27.

  15. Willenberg T, Baumgartner I; Vascular birthmarks. Vasa. 2008 Feb37(1):5-17.

  16. Photograph of Parkes-Weber syndrome, Birthmarks US website, accessed April 2011

  17. White RI Jr, Pollak J, Persing J, et al; Long-term outcome of embolotherapy and surgery for high-flow extremity J Vasc Interv Radiol. 2000 Nov-Dec11(10):1285-95.

  18. Osuga K, Hori S, Kitayoshi H, et al; Embolization of high flow arteriovenous malformations: experience with use of J Vasc Interv Radiol. 2002 Nov13(11):1125-33.

  19. Tan KT, Simons ME, Rajan DK, et al; Peripheral high-flow arteriovenous vascular malformations: a single-center J Vasc Interv Radiol. 2004 Oct15(10):1071-80.

  20. Upton J, Coombs CJ, Mulliken JB, et al; Vascular malformations of the upper limb: a review of 270 patients. J Hand Surg Am. 1999 Sep24(5):1019-35.

  21. Yamamoto H, Muneta T, Asahina S, et al; Lower leg fracture with Parkes-Weber syndrome complicated by disseminated J Orthop Trauma. 19959(5):449-52.

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