Nomenclature

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

Definition^3,4

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.

Epidemiology and aetiology

• 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

Presentation^3,4,9,10

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, e.g. 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, e.g. on minor trauma.¹¹
• Distal skin changes in the limb (due to distal vascular steal), e.g. ischaemic ulcers, pigmentation and fibrosis.

Diagnosis and investigations³

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

Differential diagnosis

• Klippel-Trénaunay syndrome (slow-flow capillary lesions without significant arteriovenous fistulae (AVFs)).
• Other vascular malformations, e.g. port-wine stains¹⁶ (tend to be purplish in colour rather than the pink-red stain found in Parkes Weber's syndrome (PWS)).
• Other causes of lymphoedema.

Management³

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, e.g. 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 (e.g. 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

Complications³

• Skin:
  • Cosmetic problems with the appearance of the lesions.
  • Some skin lesions may bleed easily, e.g. on minor trauma - patients need advice about first aid.
  • Ischaemic ulcers distal to the lesion.
  • Recurrent skin infections due to lymphoedema.
• Cardiovascular:
  • Limb pain resulting from vessel dilatation.¹⁰
  • High-output cardiac failure - due to the high-flow shunting lesions.^5,15
  • One case report describes disseminated intravascular coagulation following a leg fracture in a patient with Parkes Weber's syndrome (PWS).²¹
• Orthopaedic:
  • Pelvic tilt and scoliosis due to leg-length discrepancy.
  • Pathological fractures due to lytic bony lesions.¹⁰

Prognosis¹

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

Document references

1. Roebuck DJ; Klippel-Trenaunay and Parkes-Weber syndromes. AJR Am J Roentgenol. 1997 Jul;169(1):311-2.
2. Meier S; Klippel-Trenaunay syndrome: a case study. Adv Neonatal Care. 2009 Jun;9(3):120-4. [abstract]
3. Lobo-Mueller E, Amaral JG, Babyn PS, et al; Complex combined vascular malformations and vascular malformation syndromes Semin Musculoskelet Radiol. 2009 Sep;13(3):255-76. Epub 2009 Sep 1. [abstract]
4. Enjolras O, Chapot R, Merland JJ; Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B. 2004 Nov;13(6):349-57. [abstract]
5. Ninagawa J, Yamada Y; General anesthesia in a patient with Parkes Weber syndrome with high-output J Anesth. 2010 Apr;24(2):256-9. Epub 2010 Feb 6. [abstract]
6. Courivaud D, Delerue A, Delerue C, et al; (Familial case of Parkes Weber syndrome). Ann Dermatol Venereol. 2006 May;133(5 Pt 1):445-7. [abstract]
7. Revencu N, Boon LM, Mulliken JB, et al; Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow Hum Mutat. 2008 Jul;29(7):959-65. [abstract]
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 2001;14:15–24
11. Capillary vascular malformation, New Zealand Dermatological Society (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 Mar;23(2):257.e1-2. Epub 2008 Oct 2. [abstract]
13. Konez O, Burrows PE; An appropriate diagnostic workup for suspected vascular birthmarks. Cleve Clin J Med. 2004 Jun;71(6):505-10. [abstract]
14. Fayad LM, Hazirolan T, Bluemke D, et al; Vascular malformations in the extremities: emphasis on MR imaging features that Skeletal Radiol. 2006 Mar;35(3):127-37. Epub 2006 Jan 27. [abstract]
15. Willenberg T, Baumgartner I; Vascular birthmarks. Vasa. 2008 Feb;37(1):5-17. [abstract]
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-Dec;11(10):1285-95. [abstract]
18. Osuga K, Hori S, Kitayoshi H, et al; Embolization of high flow arteriovenous malformations: experience with use of J Vasc Interv Radiol. 2002 Nov;13(11):1125-33. [abstract]
19. Tan KT, Simons ME, Rajan DK, et al; Peripheral high-flow arteriovenous vascular malformations: a single-center J Vasc Interv Radiol. 2004 Oct;15(10):1071-80. [abstract]
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 Sep;24(5):1019-35. [abstract]
21. Yamamoto H, Muneta T, Asahina S, et al; Lower leg fracture with Parkes-Weber syndrome complicated by disseminated J Orthop Trauma. 1995;9(5):449-52. [abstract]

Internet and further reading

• Photograph of Parkes-Weber syndrome, Birthmarks US website, accessed April 2011
• Enjolras O, Logeart I, Gelbert F, et al; (Arteriovenous malformations: a study of 200 cases). Ann Dermatol Venereol. 2000 Jan;127(1):17-22. [abstract]

Acknowledgements