Parkes Weber syndrome occurring in a family with capillary malformations.
Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndrome with diffuse arteriovenous high flow leading to hemodynamic complications but without radiographic evidence of arteriovenous fistula. There are multiple individuals in the family with capillary malformations inherited in an autosomal dominant pattern. These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway.
Brunetti-Pierri
Nicola
N
Departments of Molecular and Human Genetics Radiology Dermatology, Baylor College of Medicine, Houston, Texas, USA.
Seidel
Glen F
GF
Levy
Moise L
ML
Reid Sutton
V
V
D000015:Abnormalities, Multiple / Q000473:pathology*; D002196:Capillaries / Q000002:abnormalities*; D005260:Female; D005263:Femoral Artery / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000000981:diagnostic imaging; D018810:Magnetic Resonance Angiography; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome