Parkes Weber syndrome

Associate Editor-In-Chief:

Overview
Parkes Weber Syndrome also known as (PKWS) is a vascular abnormality and characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb.

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

Genetics
Gene map locus is 5q13.3.

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

Clinical Presentation

 * Enlarged arteries and veins
 * Capillary or venous malformations
 * Cutaneous blush
 * Arteriovenous fistulas
 * Enlargement of a limb

Additional Reading

 * Moss and Adams' Heart Disease in Infants, Children, and Adolescents Hugh D. Allen, Arthur J. Moss, David J. Driscoll, Forrest H. Adams, Timothy F. Feltes, Robert E. Shaddy, 2007 ISBN 0781786843
 * Hurst's the Heart, Fuster V, 12th ed. 2008, ISBN 978-0-07-149928-6
 * Willerson JT, Cardiovascular Medicine, 3rd ed., 2007, ISBN 978-1-84628-188-4