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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
Age of onset
Infancy
ICD-10
D18.1
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Lymphangiomas
Summary
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
Symptoms
- 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
Cause
Cystic hygroma (cystic lymphangioma) may occur as part of a genetic
Diagnosis
Treatment
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]
Organizations
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
-
Lymphatic Education and Research Network
261 Madison Avenue
New York, NY 10016
Telephone: +1-516-625-9675
Fax: +1-516-625-9410
E-mail: [email protected]
Website: https://lymphaticnetwork.org/
Organizations Providing General Support
-
National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
E-mail: [email protected]
Website: https://www.novanews.org
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.
References
- Lymphatic Malformations. NORD. June 2011; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/646/viewAbstract.
- Pielop JA. Vascular lesions in the newborn. UpToDate. May, 2016; https://www.uptodate.com/contents/vascular-lesions-in-the-newborn.
- Robert A Schwartz, MD, MPH. Lymphangioma. Medscape Reference. 2016; https://emedicine.medscape.com/article/1086806-overview.
- Lymphatic malformation. DermNet NZ. December 2014; https://dermnetnz.org/vascular/lymphangioma.html.
- 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.
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