Parkes Weber Syndrome

Parkes Weber Syndrome

This rare fast-flow combined vascular malformation usually involves a lower limb, and it is usually associated with a geographic stain over the enlarged limb. Symptoms include cutaneous warmth and a bruit or thrill on clinical examination, all of which are more suggestive of a complex vascular malformation than a simple CM. MRIs and MRAs show enlarged extremity muscles and bones with an abnormal signal intensity and contrast enhancement pattern; they also show generalized arterial and venous dilatation in the involved extremity

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PARKES WEBER SYNDROME

Alternative titles; symbolsPKWSGene map locus 5q13.3
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A number sign (#) is used with this entry because of evidence that Parkes Weber syndrome in some instances is due to mutations in the gene that encodes p120-Ras GTPase-activating protein (RASA1; 139150).

CLINICAL FEATURES

Parkes Weber syndrome is characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988).

MOLECULAR GENETICS

Six families reported by Eerola et al. (2003) manifested atypical capillary malformations (163000) associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' (608354) and found mutation in the RASA1 gene (139150) in affected members of these families.

HISTORY

This syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia (187300), Sturge-Weber syndrome (185300), Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome (149000).

REFERENCES

1. Eerola, I.; Boon, L. M.; Mulliken, J. B.; Burrows, P. E.; Dompmartin, A.; Watanabe, S.; Vanwijck, R.; Vikkula, M. :
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73: 1240-1249, 2003.PubMed ID : 14639529
2. Mulliken, J. B.; Young, A. E. (eds.) :
Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co. , 1988.