Rare Pediatrics News

Disease Profile

Microcystic lymphatic malformation

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Superficial lymphangioma; Capillary lymphangioma; Capillary lymphatic malformation;

Categories

Blood Diseases; Congenital and Genetic Diseases; Rare Cancers;

Summary

Microcystic lymphatic malformation is one subtype of lymphatic malformation (LM), a congenital malformation of the lymphatic vessels in soft tissues, including the skin.[1] LM is classified into the macrocystic type, cysts larger than 2 cm with clear margins (previously known as cystic hygromas), and the microcystic type, consisting of cysts smaller than 2 cm, that appear diffuse, and grow without clear borders (previously known as lymphangioma circumscriptum). When the two types concur it is called the combined type. Microcystic lesions are commonly found inside the mouth, throat, and in the tongue, parotid gland and submandibular gland. Symptoms include deformity, and problems with breathing and feeding.[2] The exact cause is unknown but is likely related to a malformation of the lymphatic system at six to ten weeks of gestation, when some lymphatic tissue fails to communicate with the lymphatic and venous system. Treatment depends upon the clinical presentation, the size of the lesion, the location, and resulting complications. Superficial mucosal microcystic lesions may be treated with laser therapy.[1][2]

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.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Cho BC & cols. Cervicofacial Lymphatic Malformations: A Retrospective Review of 40 Cases. Arch Plast Surg. January, 2016; 43(1):10-8. https://www.ncbi.nlm.nih.gov/pubmed/26848440.
  2. Elluru RG, Balakrishnan K & Padua HM. Lymphatic malformations: diagnosis and management. Semin Pediatr Surg. August, 2014; 23(4):178-85. https://www.ncbi.nlm.nih.gov/pubmed/25241095.