Parkes-Weber syndrome is a condition characterized by limb overgrowth, capillary malformations (port-wine stains) and diffuse arteriovenous malformations. It can affect arms or legs. Long term, the disease can be associated with heart failure due to the shunt of blood from arteries to veins.
During early childhood, the patient can present with overdevelopment in length and circumference associated with bony overgrowth of the affected limb. This is seen in conjunction with red or purple skin marks, large veins, warmth and swelling of the affected extremity. If not identified and treated properly, the patient can develop heart failure symptoms.
The diagnosis is mainly made clinically by the presence of an overgrown limb associated with port-wine stains on the skin, engorged and pulsatile veins, arteriovenous malformations and swelling. Venous malformations may also be present.
Initial evaluation can be performed with ultrasound Doppler, but further anatomical details are usually obtained with Magnetic Resonance Imaging (MRI) or Computated Tomography (CT). Invasive studies, such as angiograms, are mostly performed when there is a potential to treat at the same time.
Even though it is not routinely performed, genetic testing may identify RASA1 mutation, which was found to be involved in the development of the disease in some patients.
The goal of treatment in the vast majority of cases is to control the vascular malformations, improve quality of life, and decrease the potential complications of the disease, by using compression garments, adjusting lifestyle and preventing trauma to the affected area. Embolization, use of stents and/or surgical resection of arteriovenous malformations are the most commonly used therapy choices. Patients may also need orthopedic interventions for limb length discrepancy. Evaluation by a multidisciplinary team is imperative for patients with Parkes-Weber syndrome.