Chapter: Lymphatic malformations
Article: 5 of 14
Update: Mar 15, 2021
Author(s): Meyer, Lutz
An externally visible swelling is the leading symptom of cystic lymphatic malformation (hereafter “LM”). If a child is born with severe unilateral or bilateral swelling of the neck and face and with an enlarged, protruding tongue (macroglossia), the diagnosis of lymphatic malformations is obvious. The phases of increasing and decreasing lesion volume (e.g., triggered by infections, trauma, surgery) are typical of all lymphatic malformations.
A more serious development is postnatal respiratory distress caused by a lymphatic malformation in the head and neck region, which occludes the airways by compression and/or causes intra- or paralaryngeal displacement due to frogspawn-like tumor masses.
Formations of vesicles on the skin are initially only visually troublesome. However, they may ooze fluid, rupture, cause easy bleeding (lymphatic fluid mixed with blood through lymphovenous anastomoses) or, in the worst case, they may lead to constant lymphorrhea (permanent leakage of lymphatic fluid from the skin). In this situation, the natural skin barrier is disturbed and bacterial infections such as erysipelas may develop. Similarly, mucosal vesicles can lead to easy bleeding.
On the skin, infiltration by a lymphatic malformation can result in a circumscribed, rather dark brownish discoloration, often with a localized elevation due to the space-occupying effect of an underlying lymphatic malformation.
Intrathoracic lymphatic malformations without other externally visible portions may not be noticeable until cardiorespiratory weakness occurs during exercise, when lung capacity is markedly reduced.
Retroperitoneal lymphatic malformations cause abdominal swelling and occasionally diffuse pain, probably due to mechanical traction on the mesentery. Bladder capacity may be reduced by displacement, as may bowel passage. Ileus almost never occurs.
The situation is different with intra-abdominal lymphatic malformations that are usually located in the small intestinal mesentery. Complete ileus can occur in this case as a result of compression.
Pain rarely occurs with lymphatic malformations. However, especially in the case of concomitant or solitary lymphedema, there is often a feeling of pressure and tension, particularly in the lower extremities, which increases during the day. In most cases, pain is the result of bacterial or viral infections or hemorrhage into a cyst. Then the familiar swelling of the neck can increase even more, the skin can show erythematous inflammation, the lesion can get hard and any movement or touch may become painful. Retroperitoneal LM may cause pain due to mechanical traction, or in an intra-abdominal lymphatic malformation can cause pain due to ileus.