Lymphangioma
Lymphangioma is a rare, noncancerous fluid-filled cyst that typically appears in newborns and young children, most commonly on the head or neck. These growths develop when the lymphatic system doesn’t form properly during fetal development, causing fluid to collect under the skin.
Table of contents
- What is lymphangioma?
- Other names
- Body parts affected
- Types of lymphangioma
- Causes and risk factors
- Symptoms
- Possible complications
- How is it diagnosed?
- Treatment options
- Outlook
What is lymphangioma?
A lymphangioma is a rare growth that forms when the lymphatic system develops abnormally. The lymphatic system is a network of vessels and tissues that moves a colorless fluid called lymph through your body and helps fight infections. When these vessels don’t connect properly during development before birth, fluid can back up and create swellings or masses under the skin[1].
These growths are benign, which means they are not cancerous and rarely life-threatening. Most lymphangiomas appear between birth and age 2, though they can occasionally develop later in life. They can range from tiny bumps to large masses that may affect nearby organs[3].
Lymphangiomas affect approximately 1 in 4,000 to 1 in 16,000 newborns. There is no difference in occurrence between males and females, and the condition can affect people of any race[3][6].
lymphatic malformation, cystic hygroma, cavernous lymphangioma, lymphangioma circumscriptum
Other names
Lymphangioma is also known by several other medical terms. Healthcare providers often use the term lymphatic malformation because it more accurately describes the condition as a developmental problem rather than a tumor. The term “cystic hygroma” refers to one specific type of lymphangioma. Other names include cavernous lymphangioma and lymphangioma circumscriptum, depending on the size and location of the growth[1][4].
Body parts affected
Lymphangiomas can develop anywhere on the body where lymphatic vessels exist, though they have preferred locations. The most common sites include:
- Head and neck (about 75% of cases)
- Armpits
- Chest
- Mouth and tongue
- Arms and legs
- Eyes and eye sockets
- Bones
- Internal organs
About half of all lymphangiomas in the head or neck area are present at birth, and 90% become apparent by age 2[1][12].
Types of lymphangioma
Healthcare providers classify lymphangiomas based on their size, depth, and location. There are three main types[1][3]:
Macrocystic lymphatic malformation (also called cystic hygroma) consists of large, fluid-filled pockets that are more than 2 centimeters in diameter. These are large, soft masses most often found deep within the neck, face, armpits, or chest. They appear reddish-blue in color and can grow so large that they may block a baby’s airway at birth. Half of all babies born with this type have a chromosomal disorder such as Down syndrome, Noonan syndrome, or Turner syndrome[1].
Microcystic lymphatic malformation (also called lymphangioma circumscriptum) involves smaller cysts that are less than 2 centimeters in diameter. These are pimple-sized cysts found closer to the surface of the skin. They appear on the arms, legs, chest, armpits, and mouth. The color can vary from clear to pink to black. This type may be present at birth or appear a few years later[1][3].
Mixed lymphatic malformation is simply a combination of both macrocystic and microcystic types in the same person[1].
Causes and risk factors
Scientists don’t know the exact cause of lymphangiomas, but they occur when the lymphatic system doesn’t form properly during development in the womb. During normal fetal development, lymphatic channels should connect properly to the main lymphatic drainage system. When this connection fails to form correctly, fluid collects and creates cysts[1][9].
Lymphangioma is described as a somatic mutation, meaning it affects the genes but is not an inherited condition passed down from parents to children[3].
Recent research has found that approximately 75-80% of lymphatic malformations are caused by changes in a specific gene called PIK3CA. These genetic changes occur during development but are not inherited from parents[6].
Certain conditions increase the risk of developing lymphangiomas. Babies with chromosomal abnormalities have a higher chance of developing cystic hygromas. These conditions include[1][3]:
- Down syndrome
- Turner syndrome
- Noonan syndrome
In rare cases, lymphangiomas can develop later in life. Acquired lymphangiomas occur when something disrupts previously normal lymphatic drainage, such as surgery, trauma, cancer, or radiation therapy[9].
Symptoms
The appearance and symptoms of lymphangiomas depend on their size and location in the body. Most lymphangiomas appear as swellings or masses under the skin. They can be tiny bumps or large growths that cause visible deformity[1].
Lymphangiomas typically don’t cause pain and shouldn’t be itchy. The swellings may appear as small clusters of clear vesicles that look like tiny blisters. These can vary in color from pink to red to black, especially if bleeding occurs inside them. The skin over the lymphangioma may have a warty appearance[4][12].
Most lymphangiomas occur in one localized area of the body, but occasionally they can be widespread. When lymphangiomas spread throughout the bones and soft tissues, this condition is called lymphangiomatosis[1].
While the swelling is often present at birth, it may be too small to notice at first. In these cases, the lymphatic malformation grows as the infant grows[3].
Possible complications
In general, lymphangiomas don’t cause serious medical problems. However, complications can occur depending on where the lymphangioma is located and whether it puts pressure on vital organs[1][3]:
When lymphangiomas affect the mouth or windpipe, they may cause feeding problems, difficulty swallowing, speech issues, or shortness of breath. Large masses in the neck can obstruct the airway, creating a medical emergency[1].
Lymphangiomas affecting the eyes may cause bulging eyes or double vision. Those in the chest can lead to chest pain, shortness of breath, or wheezing[1][3].
When lymphangiomas involve the gastrointestinal tract or pelvis, they may cause bladder blockage, constipation, or frequent infections. Those affecting bones may cause bone loss or abnormal bone growth[1].
The two most common complications are infection and bleeding. The fragile vessels within lymphangiomas can bleed easily, even with minor trauma. Ruptured vesicles provide an entry point for bacteria, leading to infections such as cellulitis, which is inflammation of the skin and underlying tissues[3][10].
A long-term complication is the overgrowth of involved tissues and bones, which can affect appearance and function of the affected body part[7].
How is it diagnosed?
Diagnosis of lymphangiomas is usually straightforward and can often be made based on a child’s medical history and physical examination. Before birth, lymphangiomas can sometimes be detected during routine ultrasound examinations[7].
To confirm the diagnosis and determine the full extent of the lymphangioma, doctors use imaging tests. Magnetic resonance imaging (MRI) with contrast enhancement is the most useful test. It creates detailed pictures that show the depth and spread of the lymphangioma, which helps doctors plan treatment. MRI can reveal whether the lymphangioma extends deeper than what can be seen on the surface[1][7].
Other imaging tests that may be used include ultrasound and computed tomography (CT) scans. Ultrasound uses sound waves to create images and is particularly useful for examining lymphangiomas in babies before birth[4].
In some cases, doctors may examine tissue samples under a microscope to confirm the diagnosis. This examination shows collections of enlarged lymphatic vessels filled with clear or blood-tinged fluid[9].
Treatment options
Most lymphangiomas don’t require treatment. Many small lesions remain stable and don’t cause problems. However, when treatment is necessary due to symptoms, location, or complications, several options are available[1][5].
Observation is often the first approach, especially for small lymphangiomas that aren’t causing problems. Regular monitoring ensures that any changes or complications can be addressed promptly[5].
Sclerotherapy involves injecting a chemical solution into the lymphangioma that causes it to shrink. This treatment works by destroying the abnormal vessels. Different substances can be used, including sodium tetradecyl sulfate, OK-432 (Picibanil), or hypertonic saline. Sclerotherapy is particularly effective for macrocystic (large-cyst) types but less effective for microcystic lesions[7][10][13].
Surgical removal may be necessary for lymphangiomas that affect appearance or function, or those that cause complications. Surgery aims to remove the entire malformation, but this can be challenging because lymphangiomas often extend deeper and wider than they appear on the surface. Complete removal helps prevent recurrence, but this isn’t always possible without affecting surrounding structures[7][13].
Recurrence after treatment is common, with rates varying from 17% to 100% depending on the treatment method and type of lymphangioma. This is mainly because lymphangiomas often extend deeper than can be seen or safely removed[10][13].
Laser therapy using carbon dioxide or pulsed dye lasers can treat superficial lesions. The laser vaporizes the tissue and seals lymphatic channels. However, if the laser doesn’t penetrate deep enough, symptoms may return[10][13].
Other treatment options include cryotherapy (freezing), electrocoagulation (using heat), and medications. Some patients have responded to propranolol or immunosuppressant medications that may slow growth of abnormal lymphatic vessels[7][10][13].
When infections occur, antibiotics are necessary to treat the infection. Severe or recurrent infections may require hospitalization, especially in patients with weakened immune systems[10].
Outlook
The outlook for people with lymphangiomas is generally good. These growths are benign and not cancerous. Most lymphangiomas are not life-threatening, though complications can occur depending on size and location[1][5].
Many small lymphangiomas remain stable throughout life and don’t require treatment. For those that do need treatment, options are available to manage symptoms and reduce complications. However, complete cure can be challenging because lymphangiomas tend to recur after treatment[10].
Patients with lymphangiomas should be monitored regularly for signs of infection, especially those with ruptured vesicles that provide entry points for bacteria. Regular skin examinations help evaluate whether the lymphangioma is responding to treatment or recurring[10].
For lymphangiomas affecting appearance, especially those on the face and neck, the impact on quality of life may be more related to cosmetic concerns than medical complications[3].
