Rare Cardiology News

Disease Profile

Lymphatic malformations

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)



Lymphatic malformations or lymphangiomas are benign (non-cancerous) vascular lesions made of fluid-filled spaces (cysts) thought to occur due to abnormal development of the lymphatic system.[1] In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts; they are also classified in superficial lesions known as lymphangioma circumscriptum, and more deep-seated lesions (cavernous lymphangioma and cystic hygroma).[2][3] They are present at birth, although they may be discovered later in life.[4] They are most commonly located in the neck and axilla, but they also occur in the mouth, arm, mediastinum, lung, leg, abdomen and viscera. Some may appear as a tiny blue or red spot while others are massive and affect an entire arm or leg.[4][5] The signs and symptoms vary depending on the size and location of the mass; however, lymphangiomas can disfigure affected areas and disrupt the function of nearby organs or tissues.[1] The exact underlying cause is unknown. Treatment options vary based on the signs and symptoms present in each person but may include surgery.[3]


The signs and symptoms of a lymphatic malformation (or lymphangioma) vary depending on the type, size and location of the mass. There are different ways of classifying lymphatic malformations. The classification most frequently used divides these lesions into 2 major groups based on the depth and the size of these abnormal lymph vessels. The superficial vesicles are called lymphangioma circumscriptum. The more deep-seated group includes cavernous lymphangioma and cystic hygroma:[3][4]

  • Cystic hygroma, which is also known as cystic lymphangioma or macrocystic lymphatic malformation, is a red or bluish swelling of the skin in the neck, armpit or groin region that consists of large, fluid-filled spaces. Some say it is a type of cavernous lymphangioma.
  • Cavernous lymphangioma is also considered a macrocystic lesion. It is a a bluish or red rubbery swelling under the skin that can affect any area of the body, including the tongue.
  • Lymphangioma circumscriptum is a microcystic lymphatic malformation. It appears as a cluster of small, firm blisters most commonly on the shoulders, neck, underarm area, limbs, and in the mouth, especially the tongue. It consists of tiny, fluid-filled spaces and ranges in color from clear to pink, dark red, brown or black.

Other classification includes macrocystic lymphatic malformation, microcystic lymphatic malformation and mixed type.

In general, lymphatic malformations are always present at birth, although they typically grow over time and may become more apparent with age. They are most commonly found in the head and neck region, but can affect almost any part of the body (except the brain). Some may appear as a tiny blue or red spot while others are massive and affect an entire limb (arm or leg).[1][4] Symptoms usually develop if the lymphatic malformation compresses or blocks nearby body parts or organs. For example, lymphangiomas located in the mouth or neck region can cause dyspnea, speech problems, dysphagia and feeding problems. Certain complications can occur, including recurrent cellulitis, which can cause pain and disfigurement of the affected area, and bleeding, which may lead to pain, hardening or rapid enlargement of the mass.[1]


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.[1][3][4]

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).[1][4]


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.[1][3] Other exams may be needed depending of the type of the lymphatic malformation and the location.


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.[1] 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.[1][3][4]

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.[4]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Lymphatic malformations. Click on the link to view a sample search on this topic.


          1. Lymphatic Malformations. NORD. June 2011; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/646/viewAbstract.
          2. Pielop JA. Vascular lesions in the newborn. UpToDate. May, 2016; https://www.uptodate.com/contents/vascular-lesions-in-the-newborn.
          3. Robert A Schwartz, MD, MPH. Lymphangioma. Medscape Reference. 2016; https://emedicine.medscape.com/article/1086806-overview.
          4. Lymphatic malformation. DermNet NZ. December 2014; https://dermnetnz.org/vascular/lymphangioma.html.
          5. Luo CC, Huang CS, Chao HC, Chu SM & Hsueh C. Intra-Abdominal Cystic Lymphangiomas in Infancy And Childhood. Chang Gung Med J. July, 2004; 27(7):https://memo.cgu.edu.tw/cgmj/2707/270704.pdf.

          Rare Cardiology News

          fascinating Rare disease knowledge right in your inbox
          Subscribe to receive