What do lymphatic malformations look like?
Lymphatic malformations have variable appearances. Depending on the size of the abnormal lymphatic channels, they are considered macrocystic, microcystic or a combination of both.
Macrocystic lymphatic malformations are large fluid-filled cysts that look like soft, smooth masses under normal or blue-colored skin.
The microcystic type are sponge-like and look like an area of swelling. Microcytic lymphatic malformations may also have fluid-filled vesicles (lymphatic blebs) over the lesion. Lymphatic blebs are small, raised skin lesions containing clear lymphatic fluid. Blebs may look like blisters or blood blisters. They may also become dark purple or black when blood oozes into the blebs.
Overgrowth or enlargement of body part (e.g., the lip, cheek, ear, tongue, limb, finger, or toe) may also occur in individuals with lymphatic malformations. Some lymphatic malformations are inside the body and cannot be seen without specialized imaging.
How are lymphatic malformations diagnosed?
Medical history and physical examination are used to diagnose a lymphatic malformation.
Radiologic imaging such as ultrasonography, magnetic resonance imaging (MRI), or computed tomography (CT or CAT scan) may be needed to confirm diagnosis or to see the extent of the malformation.
What are the possible complications of a lymphatic malformation?
Infection of the skin or soft tissues (cellulitis) may occur in the area of malformation. This typically happens when bacteria entering the body through open lymphatic blebs. Cellulitis could lead to a more serious or life-threatening infection. Immediate treatment with antibiotics is required to treat these skin and soft tissue infections. Individuals with lymphatic malformations in the head and neck area, especially those involving the mouth, can get frequent and serious infections. This happens when bacteria from the mouth get into the malformation. Good oral hygiene decreases these infections. Regular tooth brushing and visits to the dentist are recommended.
Bleeding into the area of the malformation may cause pain and swelling. This may occur from trauma to the area or without reason. The blebs on the skin may bleed or leak lymphatic fluid. Chronic pain and deformity may also occur.
Additional complications may be possible, such as:
- A malformation involving the windpipe, tongue or chest can cause issues with breathing, eating / drinking and speech.
- A malformation in the stomach and intestines can cause chronic diarrhea and loss of important proteins.
- A malformation in the chest can cause fluid buildup in the lungs (pleural effusion) or around the heart (pericardial effusion). This can cause heart and breathing complications.
- A malformation in the abdomen can cause fluid buildup inside the abdomen (ascites). Malformations in the abdomen can also cause urinary or bowel issues. This is a leakage of lymphatic fluid into the abdomen.
Diffuse Lymphatic Malformations
Generalized lymphatic anomaly (GLA) and Gorham-Stout disease (GSD) are rare complicated lymphatic malformations that involve multiple body sites. The areas most affected include: the bones, chest, skin, spleen, and liver. In both GLA and GSD, the lymphatic malformations involve the bones but look different on imaging. The lymphatic malformations in GSD destroy the outermost layer of the bone (cortex) and cause bone loss. In GLA, the lymphatic malformations cause “punched out” lesions or holes in the bones. These bony lesions may result in fractures in both GSD and GLA.
Patients with GLA and GSD have an increased risk of effusions, which occurs when lymphatic fluid leaks into the lungs or abdomen or around the heart. Other complications may occur depending on where malformations affect.
Kaposiform lymphangiomatosis (KLA) is a vert rare disorder that is aggressive and can be life-threatening. Like GLA, lymphatic malformations involve multiple body sites but KLA has unusual “kaposiform” lymphatic clusters.Like GLA, lymphatic malformations involve multiple body sites but KLA has unusual “kaposiform” lymphatic clusters. Individuals with KLA often have effusions, bone lesions and involvement of one or more organ. It is associated with coagulopathy (clotting and bleeding issues). Complications are related to the extent of the organ involvement and severity of the blood issues.
Treatment and Management
Should my child receive treatment for a lymphatic malformation?
Individuals with lymphatic malformations should be evaluated by a doctor who has experience with these conditions. Treatment plans must be made on an individual basis.
How are lymphatic malformations managed?
There is no “cure” for lymphatic malformations. Most lymphatic malformations cannot be completely removed by surgery. Management depends on the depth, location, and amount of the malformation. There is a variety of treatments.
Treatment options include: