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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).
- Overgrowth of a limb.
PWS is classified as a complex combined vascular malformation.
Epidemiology and aetiology
- Parkes Weber's syndrome (PWS) is rare.
- 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]
- 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.
- Limb enlargement - including muscle and bone hypertrophy, with an increase in limb length and girth. One case involving a shortened limb is reported.
- 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.
- Distal skin changes in the limb (due to distal vascular steal), eg ischaemic ulcers, pigmentation and fibrosis.
Diagnosis and investigations
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.
- Klippel-Trénaunay syndrome (slow-flow capillary lesions without significant arteriovenous fistulae (AVFs)).
- Other vascular malformations, eg port-wine stains (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.
- 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:
- 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: 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.
- 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.
The deformity tends to progress with time; the affected limb continues to show increased growth until epiphyseal closure.
Further reading and references
Enjolras O, Logeart I, Gelbert F, et al; (Arteriovenous malformations: a study of 200 cases). Ann Dermatol Venereol. 2000 Jan127(1):17-22.
Roebuck DJ; Klippel-Trenaunay and Parkes-Weber syndromes. AJR Am J Roentgenol. 1997 Jul169(1):311-2.
Meier S; Klippel-Trenaunay syndrome: a case study. Adv Neonatal Care. 2009 Jun9(3):120-4.
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.
Enjolras O, Chapot R, Merland JJ; Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B. 2004 Nov13(6):349-57.
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.
Courivaud D, Delerue A, Delerue C, et al; (Familial case of Parkes Weber syndrome). Ann Dermatol Venereol. 2006 May133(5 Pt 1):445-7.
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.
Konez O et al; Vascular Anomalies, Medscape, Feb 2010
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.
Konez O, Burrows PE; An appropriate diagnostic workup for suspected vascular birthmarks. Cleve Clin J Med. 2004 Jun71(6):505-10.
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.
Willenberg T, Baumgartner I; Vascular birthmarks. Vasa. 2008 Feb37(1):5-17.
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.
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.
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.
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.
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.