Parkes Weber syndrome

Disease Overview

Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels. The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs.[3599] Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene, and are inherited in an autosomal dominant manner.[3602][7132] In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown.[7132] Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.[3602]

Synonyms

• PKWS