Parkes Weber syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
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. [1] [2]
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.
Diagnosis
Clinical Presentation
- Enlarged arteries and veins
- Capillary or venous malformations
- Cutaneous blush
- Arteriovenous fistulas
- Enlargement of a limb
Multi Sliced CT
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Multi Sliced CT - Lower extremities: A 10 year old boy presented for assessment of leg length discrepancy and cutaneous “capillary” vascular malformation. The provisional diagnosis was Klippel-Trenaunay syndrome. The axial fat-saturated T2 weighted MRI above shows dilated vascular structures in the right lower limb involving subcutaneous and multiple muscle compartments. Flow voids and pulsation artefact (particularly laterally) suggest a high flow component consistent with arteriovenous malformation. These findings favour Parkes Weber syndrome over Klippel-Trenaunay syndrome. There was no high output cardiac failure in this case. (Image courtesy of Dr Laughlin Dawes)
See Also
References
- ↑ 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. PMID 14639529
- ↑ Mulliken, J. B.; Young, A. E. (eds.): Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co., 1988
External Links
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