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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cystic hygroma


Other Names for this Disease
  • Macrocystic lymphatic malformation
  • Cystic lymphangioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Cystic hygroma (meaning “moist tumor”) or macrocystic lymphatic malformation, is a fluid-filled sac that result from a blockage in the lymphatic system.[1][2][3] A cystic hygroma may be discovered in a fetus during a pregnancy ultrasound (fetal cystic hygroma), present as a birth defect (congenital) in a newborn as a large, soft mass covered by normal skin, or it may not become evident until later in life.[1][4] They are most commonly located in the neck, head, axilla, or chest but can be anywhere in the body. The causes include environmental factors, genetic factors, or unknown factors. About 50% of the fetal cystic hygromas are due to a chromosomal abnormality such as Turner syndrome, Down syndrome or Noonan syndrome.[1] They can be isolated or be associated with other birth defect, as part of a syndrome. Isolated cystic hygroma may be inherited as an autosomal recessive disorder.[5]. In adults they may result from delayed proliferation of the congenital or acquired lymphoid rests following trauma or earlier respiratory infections.[6] The preferred treatment is the surgical removal of the tumor.[3][11763] Other treatment may include serial thoracocentesis plus paracentesis, laser surgery and radiation therapy.[7][4][8] 
Last updated: 2/26/2016

References

  1. Cystic hygroma. MedlinePlus. February, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000148.htm.
  2. Sabi D. Cystic Hygroma Imaging. Medscape Reference. September 10, 2015; http://emedicine.medscape.com/article/402757-overview.
  3. Pielop JA. Vascular lesions in the newborn. UpToDate. May 10, 2016; http://www.uptodate.com/contents/topic.do?topicKey=DERM/5789.
  4. Warner BW. Pediatric surgery. In: Townsend CM, Beauchamp RD, Foshee JC, Evers BM, Mattox KL. Sabiston Textbook of Surgery, 18th ed. Philadelphia PA: Saunders; 2007;
  5. Cystic Hygroma. Emory University School of Medicine. 2008; http://genetics.emory.edu/documents/resources/Emory_Human_Genetics_Cystic_Hygroma.PDF.
  6. Bahl S, Shah V, Anchlia S & Vyas S.. Adult-onset cystic hygroma: A case report of rare entity. Indian Journal of Dentistry. 2016; 7(1):51-54.
  7. Chen M, Chen CP, Shih JC, Chou HC, Yu CL, Wang BT & Hsieh CY. Antenatal treatment of chylothorax and cystic hygroma with OK-432 in nonimmune hydrops fetalis. Fetal Diagn Ther. July-August, 2005; 20(4):309-15. http://www.ncbi.nlm.nih.gov/pubmed/15980647.
  8. Rahbar R, McGill TJ, Mulliken JB. Vascular tumors and malformations of the head and neck. In: Cummings. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Cystic Hygroma
    Cystic Hygroma Imaging
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic hygroma. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Macrocystic lymphatic malformation
  • Cystic lymphangioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.