A lymphatic malformation is an unusual group of lymphatic vessels that form a group of spongy, systemless, growing cysts. Lymphatic malformations appear as masses (unusual growths), but are benign (not cancerous).
What happens in lymphatic malformations?
The lymphatic system is a network of tubes that collects lymph from body tissue and keeps body fluid levels stable. This clear, pale yellow fluid comes out of blood vessels throughout the body. The lymphatic system returns the lymph to the bloodstream. Lymphatic malformations enlarge because the lymph in their unusual vessels cannot drain properly and is often different from the usual vasculature.
Lymphatic malformations also grow because their walls contain fragile malformed vessels that bleed very easily. The lymphatic malformation can fill with blood. It stretches the accumulated lymph or blood vessels and cysts, causing the lymphatic malformation to enlarge. If it is close to the surface of the skin, it may appear bruised.
As a lymphatic malformation grows, it can put pressure on nearby parts of the body, such as the eyes, trachea, or blood vessels. Lymphatic malformations can occur in the skin, fat, connective tissue, joints, organs, or bones. They can occur anywhere in the body other than the brain and are most common in the head and neck region.
There are two main types of lymphatic malformations:
- microcystic lymphatic malformationsIt is spongy and has small vessels and tiny cysts.
- macrocystic lymphatic malformations(also called cystic hygromas or lymphangiomas) have large, stretched blood vessels and cysts filled with lymph, blood from internal bleeding, or both.
What are the symptoms of lymphatic malformations?
A lymphatic malformation often presents as an enlarged lump that feels spongy. A child can have more than one lymphatic malformation, but they are usually in the same area of the body.
The skin that covers lymphatic malformations often has small blisters called vesicles. The fluid in them starts out clear and colorless, but turns dark red if blood seeps into it, as with other types of lymphatic malformations. These skin lumps can cause bleeding on the surface of the skin. Less commonly, the vesicles fill with a milky fluid called chyle.
A child with lymphatic malformation may have:
- excessive growth and swelling in the affected areas (lips, tongue, jaws, cheeks, arms, legs, fingers or toes)
- pain and swelling from the lymphatic malformation
- Tendency to damage the lymphatic malformation causing bleeding, which can occur with even very minor trauma or no known trauma.
Some symptoms are related to the area of the body affected:
Lymphatic malformations of the tongue, trachea, and mouth can cause problems with:
- Do not breathe
Lymphatic malformations of the orbit (eye socket) can cause:
- double vision
- eye swelling
Thoracic lymphatic malformations can cause:
- Chest pain
- labored breathing
- narrowing of the airways to the lungs
Lymphatic malformations in the gastrointestinal tract (gut) or pelvis can cause:
- bleeding from the rectum
- bladder obstruction
- protein loss due to malabsorption and loss of lymph in the intestine
Lymphatic malformations of the genitourinary system (kidney and bladder) can cause:
- blood in the urine
- painful urination
Lymphatic malformations in the bones can cause:
- bone growth
What causes lymphatic malformations?
Lymphatic malformations occur very early in pregnancy, but doctors don’t know why. Multiple lymphatic malformations are thought to occur randomly during a baby’s development. They are not caused by anything random that a woman did or did not do during her pregnancy.
Some of the more serious lymphatic malformations have identified genetic mutations. However, they are believed to be random at the same time and not inherited.
Lymphatic malformations are more common in children:
- Turner’s syndrome
- Overgrowth syndrome (genetic disorders that cause an unusual increase in the body or body part)
- Noonan syndrome
How are lymphatic malformations diagnosed?
Lymphatic malformations can be seen on a prenatal (before birth) ultrasound. When the baby is born, there may be a lymphatic malformation that was not present before.
The most valuable lymphatic malformations occur up to 2 years of age, after the lymphatic fluid forms and stretches the vessels of the lymphatic malformation or bleeds into them. But some are not found until adolescence or beyond.
To make sure the lump is a lymphatic malformation and not another type of tumor, doctors will perform an exam and order imaging tests such as:
- ultrasound scan
- bone scan
- Computed Tomography (CT or CAT)
- magnetic resonance
How are lymphatic malformations treated?
Pediatricians often work together as a team to treat a child’s lymphatic malformation.
The doctors involved may include:
- vascular and interventional radiologists
- orthopedic surgeons
- pediatric medicine professionals (pulmonology, cardiology, etc.)
- pediatric surgeons
- ophthalmologists (eye surgeons)
- otolaryngologists (ear, nose, and throat surgeons)
- speech pathologists
The team will examine the type and location of the lymphatic malformation and take into account the child’s age, health, and other medical problems. They will decide on the treatment that has the fewest side effects and risks and offers the best results.
Things to know about treatment options:
- Multiple lymphatic malformations that appear suddenly shrink in size and cause pain without treatment, but they rarely go away on their own.
- Incision (cutting) and drainage of lymph from a lymphatic malformation may discontinuously reduce its size. This is often done just to diagnose or treat an infection.
- Sclerotherapy (injection of a drug into the lymphatic malformation) shrinks the lymphatic malformation by causing the lymphatic vessels to collapse and heal together.
- Surgical removal is sometimes the most appropriate option when the lymphatic malformation affects organs or interferes with speech, swallowing, or vision. Minimally invasive surgery can be used, so the surgical scars are very small.
- Laser therapy can be used for lymphatic malformations in the skin or mouth.
- Radiofrequency ablation is sometimes used to treat lymphatic malformations in the tongue. A needle inserted into the lymphatic malformation sends radio waves through (destroys) the malformation.
- Medications are often used for large lymphatic malformations. They are low risk, generally well tolerated, and reduce most lymphatic malformations over time.
Rarely, if infected, antibiotic therapy and drainage of the lymphatic malformation may be required.
What else should I know about lymphatic malformation?
Lymphatic malformations can grow back, so children may need more than one treatment.
Children may be shy or embarrassed by the appearance of a lymphatic malformation. Be sure to emotionally support your child. It can be helpful to find a local baseline where other families can talk about what works for them. Request quotes from your child’s care group.