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Disease Profile

Non-involuting congenital hemangioma

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

Infancy

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ICD-10

D18.0

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)

NICH; Noninvoluting congenital hemangioma

Categories

Blood Diseases; Congenital and Genetic Diseases; Rare Cancers

Summary

Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Midfrontal capillary hemangioma
0007466
Perineal hemangioma
0031449
Subcutaneous calcification
Skin calcification
0007618
Telangiectasia of the skin
0100585
5%-29% of people have these symptoms
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Hepatic hemangioma
0031207
Peripheral arteriovenous fistula
0100784
Prominent superficial veins
Prominent veins
0001015
Thrombocytopenia
Low platelet count
0001873

Diagnosis

Non-involuting congenital hemangioma (NICH) is diagnosed by taking a biopsy of the skin mark and examining the tissue under a microscope. NICH looks different under the microscope than most infantile hemangiomas because the blood vessels are arranged more irregularly. Also, the cells in an NICH do not have glucose receptors, whereas the cells of almost all hemangiomas do have glucose receptors. Finally, NICH is different from more common types of hemangiomas because NICH does not spontaneously disappear (involute). Instead, NICH remains stable over time.[1]

Treatment

Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an NICH and it is unlikely to regrow after surgery.[1] Because NICH is a benign skin mark, surgery isn't necessary but can be considered to improve appearance of the skin.

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

  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Non-involuting congenital hemangioma. Click on the link to view a sample search on this topic.

References

  1. Enjolras O, Mulliken JB, Boon LM, Wassef M, Kozakewich HP, Burrows PE. Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly. Plastic and Reconstructive Surgery. 2001; 107:1647-1654. https://www.ncbi.nlm.nih.gov/pubmed/11391180. Accessed 12/6/2011.

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