Lymphatic malformations
| Lymphatic malformation | |
|---|---|
| Lymphatic malformation of the neck | |
| Specialty | Vascular surgery, interventional radiology, dermatology, plastic surgery |
Lymphatic malformations (LMs) are congenital, benign slow-flow vascular malformations of the lymphatic system characterized by abnormally dilated lymphatic vessels that do not connect properly to the normal lymphatic circulation. These malformations represent developmental anomalies that occur during embryonic lymphatic system formation and are primarily caused by somatic activating mutations in the PIK3CA gene, found in approximately 75-80% of cases.
The umberella term "lymphatic malformation" has replaced older terminology including "lymphangioma," "cystic hygroma," and "lymphangioma circumscriptum." This is because the suffix -ioma imply a relationship to cancer, but these malformations are not cancerous.