RASA1-related capillary malformation-arteriovenous malformation

Definition

A rare capillary malformation-arteriovenous malformation characterized by single or multiple cutaneous lesions ranging from round to oval shape with pinkish to purplish-red or reddish-brown macules, randomly distributed over the body. Perilesional pale halo are usually detected on the skin. These lesions may occur with or without arteriovenous malformations/arteriovenous fistulas involving muscle, bone, spine and brain. Parkes Weber syndrome with segmental distribution may also be present. Most patients are asymptomatic except for the capillary malformations, the family history is often positive for capillary malformations.