Parkes-Weber syndrome

Parkes-Weber syndrome involves diffuse arteriovenous malformation (AVM) of a limb with overgrowth of that limb.

The affected limb usually has CM involving some of the skin, and is increased in length and girth.

When the amount of blood passing through the AVM is very large, an high-output cardiac failure can be observed.

Features

 vascular malformations

• micro-arteriovenous malformations (AVM) (arteriovenous fistula)
• atypical capillary malformations (MIM.163000)
• soft tissue and skeletal hypertrophy of the affected limb

Etiology

 Some Parkes Weber syndromes are due to mutations in the gene RASA1 that encodes p120-Ras GTPase-activating protein (MIM.139150)