Lymphatic Malformation

A lymphatic malformation is a sponge-like collection of abnormal growths that contain clear fluid. It is probably caused by a developmental error in the womb, and no known food, medication, or activity during pregnancy can cause a lymphatic malformation.

Lymphatic malformations can be related to certain conditions, including:

• Gorham-Stout: A type of lymphatic malformation that occurs in bones and partially destroys them.
• Milroy disease: An inherited lymphedema (generalized swelling typically occurring in the legs) that is present at birth.
• Lymphangioma circumscriptum: An abnormal collection of tiny lymphatic cysts.
• Angiokeratoma: A group of skin lesions that are raised, dark red to black in color, and about 1 to 10 mm in size. Because these lesions often bleed spontaneously or following abrasion, treatment may be required to control bleeding.

Lymphatic malformations typically lie just beneath the skin in the neck and the armpit, although they can also occur in other organs and in bones. They appear as swelling and sometimes as a more extensive enlargement of soft tissues and bones.

A lymphatic malformation in the skin looks like tiny clear bubbles that often become dark red due to bleeding. Lymphatic malformations can cause the enlargement of any part of the body, including the lip, cheek, ear, tongue, limb, finger, or toe.

The two major complications are infection and bleeding. A long-term complication of a lymphatic malformation is the overgrowth of involved tissues and bones.

Before birth, lymphatic malformations can often be detected by an ultrasound. Usually, your child’s medical history and physical examination will be enough for your doctor to make the diagnosis. Magnetic resonance imaging (MRI) with contrast enhancement is used to confirm the diagnosis and determine the extent of the lymphatic abnormality.

Left untreated, lymphatic malformations can result in pain, bleeding, and infection. If your child’s lymphatic malformation causes any of these complications, your physician will recommend treatment based on the depth, location, and severity of the malformation.

Treatment options include:

• Sclerotherapy to shrink the malformation
• Immunosuppressant medication to reduce pain and slow the growth of abnormal lymphatic vessels
• Surgery may be helpful to remove small, localized malformations completely without affecting surrounding structures

The clinicians at the Vascular Anomalies Center at Boston Children's Hospital care for and treat children with lymphatic malformations. The team conducts research that may lead to the development of new, more effective therapies and result in ways to prevent these anomalies.