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My Child Has:
Lymphatic Malformation
What is a lymphatic malformation (LM)?
LM is a sponge-like collection of abnormal channels and cystic spaces that contain clear fluid. The incidence in babies is unknown, however, they are not uncommon. Old terms for LM are "cystic hygroma" and "lymphangioma." There are 2 major forms of LM: mircocystic and macrocystic. Lymphedema (swelling of a limb) is also a form of LM.
What causes LM?
Lymphatic channels sprout from veins in early embryonic life. Protein-rich fluid normally filters out of blood-filled capillaries into tissues throughout the body. The lymphatic system serves to transport this fluid back into the venous system. In the gastrointestinal tract, lymph is thicker, containing absorbed fat. This fluid is called chyle.

Although the precise cause is unknown, LMs are believed to be caused by an error in the formation of these tiny, thin-walled sacs and tubes in the embryonic period. No known food, medication, or activity during pregnancy can cause an LM.

When does an LM occur?
LM arises during the formation of the primitive lymphatic system from the venous system, before 5 to 6 weeks of embryonic life.
What do LM look like?
Image
LM typically lies within and just beneath the skin, although can also occur in other organs and in bones. They most commonly occur in the neck and axilla (armpit), but can occur in most any location, including deep within the body. LM presents as localized swelling and sometimes more extensive enlargement of soft tissues and bones. LM in the superficial skin presents as tiny clear bubbles (vesicles) that often become dark red due to bleeding. LM is a common basis for enlargement of any structure, e.g. lip, cheek, ear, tongue, limb, finger, or toe. Generalized swelling due to trapped tissue fluid, called lymphedema, can also be caused by a type of LM.
Can LM be prevented?
No, but complications can be diminished. LM often swells when the patient has a viral or bacterial infection anywhere in the body. Infection in a LM of the head/neck region is less likely if the patient practices strict oral hygiene, e.g. teeth brushing and frequent cleaning by a dental hygienist. Children must be treated promptly for middle-ear infections. If repeated infection in an LM occurs, preventive antibiotic therapy may be indicated and consideration may be given to sclerotherapy (direct injection of an irritation solution) and/or surgical excision.
What are the possible complications of LMs?
The two major acute complications are infection and bleeding into the LM. Another long-term complication is overgrowth of involved tissues and bones. LM near the windpipe (trachea) can cause difficulty breathing while LM in the gastrointestinal tract can cause protein loss. LM of the thorax can cause leakage of lymphatic fluid into the chest cavity (chylothorax) and cardiac as well as pulmonary (lung) complications. LM of the abdomen can cause leakage of lymphatic fluid into the abdomen (chylous ascites).
How are LM diagnosed?
Usually the medical history and physical examination suffice to make the diagnosis. Nevertheless, LM can be confused with a venous anomaly. Magnetic resonance imaging (MRI) with contrast enhancement is used to confirm the diagnosis and determine the extent of the lymphatic abnormality. Before birth, LMs can often be detected by an ultrasonic examination.
How are LM treated?
Two ways to manage LMs are sclerotherapy (direct injection of an irritating solution) and surgical removal.
What research is being done on LMs?
Studies on genetic mechanisms are just beginning. A vascular endothelial growth factor receptor (VEGFr3) that is specific for lymphatics has been identified. Three genes associated with inherited lymphedema (generalized swelling due to lymphatic abnormality) have been identified. Animal models simulating lymphedema are currently being studied.
Terms associated with LM
Gorham syndrome (Gorham-Stout syndrome) is a type of LM occuring in bone(s) causing destruction of the bony architecture. Other terms for Gorham syndrome are disappearing bone disease, phantom bone disease, Trinquoste syndrome, or (when involving the arm) hemangiomatosis braquial osteolytica of Martorell. When it involves the bones of the chest wall, Gorham syndrome can be associated with chylothorax (leakage of lymphatic fluid into the chest cavity). A severe and generalized form of Gorham syndrome is known as Haferkamp syndrome.

Milroy disease is an inherited lymphedema that is present at birth. It is characterized by lymphedema, a generalized swelling (usually in the lower limbs) due to trapped tissue fluid (lymph). The skin of the involved limbs of infants with Milroy disease may appear pink, but this discoloration is not due to malformed capillaries. The lymph nodes of individuals with Milroy disease show fibrosis, a proliferation of fibrous connective tissue. Mutations in the gene for VEGFR3 cause this inheritable disorder

Lymphangioma circumscriptum is confined to the skin and subcutaneous (beneath the skin) layer. An abnormal collection of tiny lymphatic cysts, it is often more widespread than it appears.

Angiokeratoma, refers to a group of skin lesions that are raised, dark red to black in color, and approximately 1 to 10 mm in size. The three major types of angiokeratoma-Mibelli, Fordyce, and Fabry-are named for the physicians who first described them. Angiokeratoma of Mibelli lesions occur on the hands or feet, Fordyce lesions appear on the scrotum, and Fabry lesions occur on the thighs or trunk. Although they often look very similar, there are notable differences among these three types of lesions. Because these lesions often bleed spontaneously or following abrasion, treatment such as electrocoagulation, cryotherapy, or laser therapy may be required to control bleeding.

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Programs that treat this condition:
Advanced Fetal Care Center
Center for Aero-Digestive Disorders (CADD)
Center for Head, Neck, and Skull Base
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