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Genetic and Rare Diseases Information Center (GARD)

Cystic hygroma

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Your Question

I'm a young adult and I have a cystic hygroma. I want to know how rare it is. I would also like to learn more about its treatment.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is a cystic hygroma?

Cystic hygroma (meaning “moist tumor”) are fluid-filled sacs that result from a blockage in the lymphatic system, often in the head and neck area.[1][2] A cystic hygroma may be discovered in a fetus during a pregnancy ultrasound, present as a birth defect (congenital) in a newborn, or it may not become evident until later in life.[1][3] The causes include environmental factors, genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are due to a chromosomal abnormality known as Turner syndrome, in which a female has only one X chromosome instead of two. When a cystic hygroma is identified in a fetus, parents are counseled regarding their baby's risk for having a chromosome problem or other birth defect, and are offered additional testing options such as special ultrasound tests or amniocentesis.[1] Cystic hygromas can occur as an isolated finding or with other birth defect as part of a syndrome. Isolated cystic hygroma may be inherited as an autosomal recessive disorder.[4] A fetal cystic hygroma may progress to hydrops (an excess amount of fluid in the body) and eventually to fetal death. Cystic hygromas in infants, children, or adults may enlarge or become infected, and may require surgery or other therapy to remove or shrink the mass.[3][5] Fetal cystic hygroma may be treated with serial thoracocentesis plus paracentesis.[6]
Last updated: 2/26/2016

What are the signs and symptoms of a cystic hygroma?

A cystic hygroma is a noncancerous (begnin) mass. It often appears as a painless soft bulge under the skin, however it can bleed or become infected, which may cause the mass to enlarge and cause pain. A viral or bacterial infection may also cause swelling. A potentially serious complication of cystic hygroma in the neck area, is airway restriction or blockage.[3]
Last updated: 3/4/2010

How might cystic hygroma be treated?

It is extremely rare for cystic hygromas to spontaneously resolve or shrink on their own.[5] Surgery to remove the cystic hygroma is recommended when possible.[3] When surgery removes all abnormal tissue, the chance of complete recovery is good. If complete removal is not obtained, the cystic hygroma will often return.[1][3]

When surgery is not possible (e.g., the hygroma is too close to an important body structure), treatment alternatives may include chemotherapy medications, injection of sclerosing medications, radiation therapy, or steroids.[1] These treatments have been attempted with limited success.[1] Examples of sclerosing medications that have been used include pure ethanol, sodium tetradecyl sulfate, doxycycline, and OK-432 (a killed strain of group A Streptococcus pyogenes).[5] Incision and drainage or aspiration of the cystic hygroma results in only temporary shrinkage.[5]
Last updated: 3/4/2010

How rare are cystic hygromas?

Unfortunately for the rare diseases, there is often not a calculated incidence or prevalence rate. There is no official method for tracking these conditions and no official statistics exist, only estimates. In our search of the medical literature, the most commonly quoted incidence estimate for cystic hygroma is 1 in 6,000 live births. This means that approximately 1 baby in 6,000 is born with a cystic hygroma.
Last updated: 3/4/2010

Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.