A lymphatic malformation is a birth defect involving the lymphatic system, a network of vessels and organs. These abnormal growths or collections of lymphatic vessels do not function correctly. They are present at birth and can vary in size and location.
Understanding Lymphatic Malformations
The lymphatic system is a network of vessels, nodes, and organs, including the spleen, thymus, tonsils, and adenoids. Its primary roles include maintaining fluid balance by removing excess fluid from body tissues and supporting the immune system by transporting immune cells and clearing waste products. Lymphatic fluid, also known as lymph, circulates through these vessels.
A lymphatic malformation occurs due to abnormal development of lymphatic vessels before birth. Instead of forming a proper drainage system, these vessels become enlarged or misshapen, leading to a collection of lymphatic fluid that forms cysts or spongy masses. These are developmental errors occurring sporadically during fetal development. While most cases are random and not inherited, some severe forms have identified genetic mutations.
Lymphatic malformations are categorized by the size of the abnormal lymphatic channels. Macrocystic malformations consist of large fluid-filled cysts, appearing as soft masses under the skin, sometimes with a bluish tint. Microcystic malformations are composed of smaller, sponge-like cysts that can look like an area of swelling or small blister-like sacs on the skin. Mixed malformations contain both large and small cysts.
Recognizing and Diagnosing Lymphatic Malformations
Lymphatic malformations often present as a soft, smooth lump or mass, most commonly found in the head and neck region, but they can appear anywhere on the body except the brain. They can also be found on the limbs, chest, or internal organs. Depending on their location, they can cause functional issues. For instance, malformations in the windpipe, tongue, or chest can lead to difficulties with breathing, eating, or speech.
The appearance can vary; some may look like tiny clear bubbles on the skin that can turn dark red if blood leaks into them. A lump or mass that rapidly increases in size may indicate bleeding or infection within the malformation. Swelling, pain, and discoloration are common signs.
Diagnosis can occur before birth through a prenatal ultrasound scan. If not detected prenatally, most significant lymphatic malformations are identified at birth or by two years of age during a physical examination. Imaging tests, such as magnetic resonance imaging (MRI) or ultrasound, are used to confirm the diagnosis and determine the extent and location of the malformation, including whether other organs are involved. Computed tomography (CT) scans can also provide detailed images.
Treatment Approaches and Management
The primary goals of treating lymphatic malformations are to reduce their size, prevent complications, and improve function and cosmetic appearance. The chosen treatment approach depends on the malformation’s size, location, and the child’s overall health.
If the malformation is not causing pain or significant issues, a “wait and see” approach may be recommended, as some malformations can decrease in size without intervention. This observation period allows medical professionals to monitor the malformation’s progression.
Sclerotherapy is a common non-surgical procedure where a sclerosant solution is injected directly into the malformation. This solution damages the lymphatic vessels, causing them to scar and shrink, which prevents lymph fluid from accumulating. Multiple treatments may be necessary, and potential side effects can include blistering, scarring, infection, numbness, or tissue loss.
Surgical excision is another option, considered for localized malformations that can be completely removed without harming surrounding structures. Surgery may also be pursued if other treatments are unsuccessful. Scarring is an expected outcome of surgical removal.
Less common therapies include laser therapy for skin lesions, and medications like sirolimus. Sirolimus, an immunosuppressant, may be used to reduce pain and slow the growth of abnormal lymphatic vessels in complex cases. A multidisciplinary team of specialists, including pediatricians, surgeons, and radiologists, often collaborates to create a comprehensive treatment plan.
Living with Lymphatic Malformations
Children with lymphatic malformations may experience complications depending on the size and location of the growth. Common issues include cellulitis (infection of the skin or soft tissues around the malformation, often from bacteria entering through skin lesions). Bleeding into the malformation can cause pain and swelling. Malformations near airways, such as in the neck or chest, can obstruct breathing or swallowing.
Lymphatic malformations can recur even after treatment, particularly microcystic and mixed types, which may require multiple interventions. The long-term outlook for children with lymphatic malformations is generally positive with appropriate management. Continuous monitoring and follow-up with medical professionals are important to manage recurring issues or new complications.
Support for families dealing with a child’s lymphatic malformation is available. Connecting with support groups or accessing resources can provide emotional support and practical advice.