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Parkes-Weber syndrome in Adult
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Parkes-Weber syndrome in Adult

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Contributors: Vivian Wong MD, PhD, Susan Burgin MD
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Synopsis

Parkes-Weber syndrome is a rare vascular malformation syndrome with extensive capillary malformations that appear at birth or during early childhood. Associated high-flow arteriovenous fistulas cause abnormal growth of the soft tissue and bony structures of a limb, with subsequent overgrowth of length and girth. A single lower extremity is typically involved, though cases with multiple limb involvement have been reported. High-flow arteriovenous shunts may also result in tachycardia, hypertension, and high-output cardiac failure. Cases are usually sporadic. Some cases are inherited in an autosomal dominant pattern due to mutations in the RASA1 gene. There is no known sex or ethnic predilection. Prognosis may be poor due to complications including bleeding, limb ischemia, and heart failure.

For more information, see OMIM.

Codes

ICD10CM:
Q87.2 – Congenital malformation syndromes predominantly involving limbs

SNOMEDCT:
234143003 – Parkes Weber syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Klippel-Trenaunay syndrome – A vascular malformation syndrome with limb hypertrophy. However, the buttock and trunk are often involved, and there are no arteriovenous fistulae or high-output cardiac failure.
  • Proteus syndrome – Asymmetrical overgrowth of soft tissue and bone with variable vascular malformations.
  • Servelle-Martorell syndrome – Capillary malformations associated with undergrowth of a limb.
  • Maffucci syndrome – Vascular malformation with enchondromas.
  • CLOVE syndrome – Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi without limb hypertrophy.
  • Blue rubber bleb nevus – Widespread venous malformations without limb hypertrophy.
  • Congenital port-wine stain
  • Capillary malformation-arteriovenous malformation syndrome – Similar findings to Parkes-Weber, but no limb abnormalities.

Best Tests

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Therapy

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References

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Last Updated: 10/01/2019
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Parkes-Weber syndrome in Adult
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Parkes-Weber syndrome : Asymmetric trunk or extremity, Unilateral, Limb hypertrophy
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