A lymphangioma is a non-cancerous malformation of the lymphatic system, which is a network of vessels and tissues that helps manage fluid balance and immune function in the body. They are fluid-filled cysts resulting from abnormal lymphatic vessel development. Though rare, they are typically present at birth or become noticeable early in a child’s life, often before age two.
Types of Lymphangiomas
Lymphangiomas are broadly classified based on the size of their cysts, influencing their appearance and depth. Macrocystic lymphangiomas are characterized by larger cysts, over 2 centimeters, with distinct borders. Cystic hygroma is a well-known macrocystic example, often found in the neck or armpit as a soft swelling. Cavernous lymphangiomas are deeper, poorly defined lesions that can appear as bluish or reddish rubbery swellings beneath the skin.
Microcystic lymphangiomas consist of smaller cysts, under 2 centimeters, that tend to be diffuse and lack clear borders. Lymphangioma circumscriptum is a superficial microcystic type, presenting as clusters of small, firm, blister-like bumps on the skin. These lesions can range in color from clear to pink, dark red, brown, or black. Some lymphangiomas are classified as mixed, indicating they contain both macrocystic and microcystic components.
Causes and Risk Factors
Lymphangiomas are congenital conditions, present from birth. They arise from an irregular development of the lymphatic vessels during the embryonic stage. This occurs when primitive lymphatic sacs or channels become blocked or fail to connect, leading to lymphatic fluid accumulation and cyst formation.
The precise reason for this abnormal development is often not fully understood. Lymphangiomas are not typically hereditary. Parents should understand these malformations are not caused by anything they did or did not do during pregnancy. While generally sporadic, some lymphangiomas have been observed in association with certain genetic conditions, including Down syndrome, Turner syndrome, and Noonan syndrome.
Recognizing Symptoms and Diagnosis
Lymphangiomas often present as a soft, compressible mass under the skin. These masses are typically painless, though discomfort can arise if they grow large or press on surrounding structures. Common locations for lymphangiomas include the head, neck, armpit, mouth, abdomen, or extremities. Skin overlying the malformation may show discoloration, appearing bluish or purplish.
Symptoms become more noticeable if the lymphangioma expands, potentially causing complications depending on its location. For instance, a large growth in the neck or mouth can lead to difficulties with breathing, swallowing, or speaking. If located near an eye, it might cause visual disturbances.
Medical professionals typically begin diagnosis with a physical examination. Imaging studies are then used to assess the size, depth, and full extent of the malformation. Ultrasound is often the initial imaging choice for superficial lesions, while Magnetic Resonance Imaging (MRI) provides detailed images, useful for evaluating complex or deep-seated lesions. Computed Tomography (CT) scans can also help determine the lesion’s size and involvement of surrounding tissues. In some instances, a biopsy may be performed to confirm the diagnosis.
Treatment Approaches
The approach to treating a lymphangioma depends on several factors, including its size, location, type, and whether it is causing symptoms or complications. For small lymphangiomas that are not causing any problems, a period of observation may be recommended, as some might remain stable or even shrink.
One common treatment method is sclerotherapy, which involves injecting a substance directly into the lymphangioma to cause inflammation and scarring, leading to its shrinkage. Doxycycline and OK-432 are examples of agents that can be used for this purpose. This procedure is particularly effective for macrocystic lesions. Surgical excision is another treatment option. However, complete surgical removal can be challenging for larger or diffuse lesions, and there is a possibility of recurrence if any part of the malformation is left behind.
For superficial lymphangiomas, laser therapy can be used to treat the visible lesions. In more complex or widespread cases, newer systemic medications are being explored. Sirolimus, an immunosuppressant drug, has shown promise in managing extensive lymphangiomas by targeting the growth pathways of lymphatic vessels. The choice of treatment is highly individualized, with medical teams weighing the benefits and risks of each option to achieve the best possible outcome.
Long-Term Outlook and Management
Lymphangiomas are benign formations that do not spread. Their presence can still impact an individual’s health and well-being, depending on their size and location. While treatment can alleviate symptoms and reduce malformation size, recurrence is possible, especially if not entirely removed or if diffuse. Ongoing monitoring by healthcare professionals is an important aspect of long-term management.
Individuals with lymphangiomas often benefit from a multidisciplinary care approach, involving various specialists. This team might include pediatricians, surgeons, dermatologists, and interventional radiologists, who provide comprehensive care tailored to the patient’s needs. Potential long-term complications can include infection, bleeding, or functional impairment if the lymphangioma affects an organ or limb. These complications are managed as they arise, with interventions such as antibiotics for infections or further procedures to address functional issues. Patient and family education about the condition is also a significant part of ensuring appropriate care.