Capillary malformation - arteriovenous malformation

The syndrome is characterized by the coincidence of arteriovenous fistulas, arteriovenous malformation, and multiple capillary malformations.

The unusual capillary malformations are small, pink and round to oval shaped. The location of the arteriovenous malformations is in the brain, in the bones and muscles, as well as in the skin and the subcutis.

The disease may be associated with other syndromes, such as Parkes-Weber syndrome.

The cause is a heterozygous mutation in the RASA1 gene at the locus 5q12.3 responsible, which encodes the activator-1 of the RAS p21 protein.