Lymphatic Malformation

What is a lymphatic malformation?

A lymphatic malformation is a mass of abnormal lymphatic vessels. Lymphatic vessels are small canals that lie near blood vessels and help carry tissue fluids from within the body to the lymph nodes and back to the bloodstream.

There are two main types of lymphatic malformations: microcystic and macrocystic.

Microcystic lymphatic malformations are composed of small lymphatic channels. Microcystic lymphatic malformations are also known as “lymphangioma circumscriptum.” These commonly occur on the skin and oral mucosa (i.e. inside the mouth.)
Macrocystic lymphatic malformations are composed of larger lymphatic cysts, rather than small lymphatic channels. Macrocystic lymphatic malformations are sometimes referred to as a “cystic hygroma.” Frequent locations include the neck, chest and upper back.

When lymphatic malformations have components of small lymphatic channels and large lymphatic cysts, they are referred to as a “combined” microcystic and macrocystic lymphatic malformation.

What are the symptoms of a lymphatic malformation?

Lymphatic malformations are present at birth, but they are sometimes not detected until the child is older or until a stimulus such as trauma or infection causes the lymphatic malformation to rapidly swell. Symptoms of a lymphatic malformation depend on the location of the malformation.

• Lymphatic malformations in the mouth, cheek, or tongue can rapidly enlarge following dental or airway infections.
• Large lymphatic malformations in the head and neck can cause underlying bony changes or can compress the airway and make breathing difficult.

How is a lymphatic malformation diagnosed?

During pregnancy, a fetal ultrasound may detect some large lymphatic malformations, however most lymphatic malformations are detected after birth. After birth, diagnosis of a lymphatic malformation is determined by a complete medical history and physical examination. If the diagnosis is not clear based on the physical exam and history, further diagnostic tests such as ultrasound, CT scan or MRI are frequently performed.

How is a lymphatic malformation treated?

Specific treatment of lymphatic malformation will be determined by your child's doctor based on:

• Your child's age, overall health, and medical history
• Extent of the condition
• Your child's tolerance for specific medications, procedures, or therapies
• Expectations for the course of the condition
• Your opinion or preference

Treatment may include:

• Observation of the malformation (to watch for growth or changes)
• Antibiotic medications (to treat infection)
• Sclerotherapy (injection of medicine into the lymphatic vessels to induce shrinkage)
• Surgery (to remove the lymphatic malformation)
• Medical therapy (including sildenafil and sirolimus)

Learn more about our ongoing clinical trial on the use of sildenafil in lymphatic malformations.