Parkes weber syndrome Q87.25

Friedrich Parkes Weber, 1907

Parkes-Weber syndrome is associated with an autosomal dominant inheritance caused by germline heterozygous inactivating alterations in the RASA1 gene and is characterized by multiple micro-arteriovenous fistulas and segmental overgrowth of soft tissue and skeletal components. The syndrome is considered by some authors to be a variant of Klippel-Trénaunay syndrome, but in contrast to the latter, it has hemodynamically relevant AV fistulas.

There are no reliable figures on the prevalence of Parkes Weber syndrome. In a study with 10 patients, women were affected more frequently at 7:3.

Parkes Weber syndrome is associated with mutations in the RASA1 gene.

Naevus flammeus of the affected extremity.

Varicose formations with dilatation of veins and arteries.

Evidence of hemodynamically active arteriovenous fistulas with consecutive, ipsilateral local soft tissue and bone hypertrophy, with peripheral ischemic damage, cardiopulmonary stress and heart failure.

Lymphedema

Proportional hypertrophy of one (rarely both) lower extremity .

Not uncommon are dffuse pains of the affected extremity, which can occur or increase during physical exertion. This may force partial amputation of a limb.

Aneurysms of the iliac vein are less frequently detected.

The morphology and functionality of the deep vein system, including AV fistulas, must be subtly clarified before any therapy is started. Superficial veins with a clear collteral function in the case of high-grade hypoplasia or aplasia in the deep vein system cannot usually be treated by complete elimination.

The conservative options with lifelong compression of the lesional extremity therefore play a decisive role in all therapeutic concepts.

Orthopaedic treatment is important, if necessary with height compensation of the extremities.

Surgical treatment of arteriovenous fistulas after contrast imaging by vascular surgery with closure of the shunt sites.

Regular monitoring of the heart.

From a dermatological point of view, treatment of the nevus flammeus with laser therapy(pulsed dye laser, argon laser).

With this spelling (Parkes Weber Syndrome) it is implied; that "Parkes Weber" is 2 persons. In fact, Frederick Parkes Weber is a single person.

1. Aggarwal K et al (2003) Klippel-Trenaunay syndrome with a life-threatening thromboembolic event. J Dermatol 30: 236-240
2. Banzic I et al (2015) Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. Ann Vasc Surg 29:1450.
3. Girón-Vallejo O et al (2013) Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. Ann Vasc Surgery 27:820-825.
4. Larralde M et al (2014) Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. Int J Dermatol 53:458-461.
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6. Stefanov-Kiuri S et al (2014) Images in clinical medicine. Parkes Weber syndrome. N Engl J Med 371:2114.
7. Vissers W et al (2003) Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? Eur J Dermatol 13: 238-241
8. Weber FP (1907) Angioma formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatology (Oxford) 19: 231-235

9. Weitz NA et al (2015) Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. Pediatric Dermatol 32:76-84.

10. Wolf CH et al (1987) Angiodysplasias of the extremities. Dermatologist 38: 645-651