Lymphatic malformations

What causes a lymphatic malformation?

A lymphatic malformation (lymphangioma) is thought to occur due to abnormal development of the lymphatic system; however, the exact underlying cause is unknown in most cases.

Cystic hygroma (cystic lymphangioma) may occur as part of a genetic syndrome such as Noonan syndrome, Turner syndrome and Down syndrome. In these cases, the lymphatic malformations are likely due to genetic causes, such as a change (mutation) in a gene or an abnormal number of chromosomes (a missing or extra chromosome).

Last updated on 05-01-20

How is a lymphatic malformation diagnosed?

Lymphatic malformations (lymphangiomas) can often be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis of a lymphatic malformation is usually made based on physical examination. Additional imaging studies such as magnetic resonance imaging (MRI), computed tomography scanning (CT scan) and/or ultrasound may be used to evaluate the lymphangioma in more detail. Other exams may be needed depending of the type of the lymphatic malformation and the location.

Last updated on 05-01-20

What is the long-term outlook for people with lymphatic malformations?

In general, the long-term outlook (prognosis) for people with lymphtic malformations (lymphangiomas) is considered good since it is a benign mass that does not advance to cancer. However, these masses can sometimes negatively impact quality of life. Depending on the size and location of the mass, they can be associated with significant disfigurement of affected areas and/or symptoms caused by the compression or blockage of nearby body parts or organs. Although treatment can alleviate certain symptoms, lymphatic malformations may regrow in some cases.

Last updated on 05-01-20

How might a lymphatic malformation be treated?

The best treatment options for lymphatic malformations (lymphangiomas) depend on many factors including the size and location of the mass; the type of mass; whether or not the mass is causing symptoms; and/or the affected person's tolerance of certain procedures. Cystic hygromas and cavernous lymphangioma (bluish or red rubbery swellings under the skin) are often surgically removed; however, other procedures such as sclerotherapy (a solution is injected into the lymphatic malformation, causing it to shrink or collapse), laser therapy or radiofrequency ablation (a procedure where a needle is used to deliver a high- frequency alternating current that destroys abnormal tissue), may be tried depending on the size and location of the mass. Unfortunately, some of these masses may be difficult to remove and they often regrow after surgery.

Lymphangioma circumscriptum (clusters of small, firm blisters) usually require no treatment, although they can be removed with dermabrasion or laser therapy. Like other types of lymphatic malformations, they often recur after removal.

Last updated on 05-01-20

Name: Lymphatic Education and Research Network 261 Madison Avenue
New York, NY, 10016, United States
Phone: +1-516-625-9675 Fax : +1-516-625-9410 Email: Url:
Name: National Organization of Vascular Anomalies PO Box 38216
Greensboro, NC, 27438-8216, United States
Email: Url:
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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