Confirmation of the diagnosis is with molecular genetic testing for the PIK3CA gene mutation.
Management can be very challenging and requires an interdisciplinary team of physicians with experience in overgrowth and vascular anomalies. Debulking operations are necessary to reduce the size of the significant overgrown tissue. Orthopedic procedures are usually necessary for large limb anomalies. Large veins and lymphatic malformations should be treated with minimally invasive procedures such as sclerotherapy, embolization(Interventional Radiology) and laser treatment before undergoing surgical procedures. The tethered cord is treated surgically.
Medical therapy with sirolimus demonstrated promising results, especially for patients with lymphatic malformation and pain and this treatment, should be led by hematologists/oncologists.
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