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Disease Profile

Acanthosis nigricans

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)

AN

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Acanthosis nigricans (AN) is a skin disorder in which there is darker, thick, velvety skin in body folds and creases. This condition usually appears slowly and doesn't cause any symptoms other than skin changes. Eventually, dark, velvety skin with very visible markings and creases appears in the armpits, groin and neck folds, and over the joints of the fingers and toes. Less commonly, the lips, palms, soles of the feet, or other areas may be affected. The exact cause of this condition is not well understood; but it can be inherited or related to medical problems such as obesity, diabetes mellitus (insulinresistance), some prescription drugs, and cancer.[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
Percent of people who have these symptoms is not available through HPO
Acanthosis nigricans
Darkened and thickened skin
0000956
Autosomal dominant inheritance
0000006

Treatment

There is no specific treatment for AN. Treatments are used mostly to improve cosmetic appearance and include topical retinoids, vitamin D creams (such as calcipotriol), dermabrasion and laser therapy. Oral retinoid pills have also been used to treat AN, but are not used for most patients because of the multiple side effects and development problems associated with the treatment. Treatment may also focus on trying to correct the underlying disease that causes AN to develop. Often correcting the underlying disease improves the skin symptoms. Some steps that can be taken depending on the underlying disease include: correcting hyperinsulinaemia through diet and medication, losing weight with obesity-associated AN, removing or treating a tumor, or stopping medications that cause AN.[2][3]

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.
  • 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) 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.
  • 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. 
  • 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 Acanthosis nigricans. Click on the link to view a sample search on this topic.

References

  1. Acanthosis nigricans. MedlinePlus Health Topics. Bethesda, MD: National Library of Medicine; September, 2010; https://www.nlm.nih.gov/medlineplus/ency/article/000852.htm. Accessed 8/15/2014.
  2. Braunstein I. Acanthosis nigricans. In: Callen J, Ofori AO. UpToDate. Waltham, MA: UpToDate; March, 2014; https://www.uptodate.com/contents/acanthosis-nigricans. Accessed 8/15/2014.
  3. Acanthosis nigricans. DermNet NZ. New Zealand: DermNet New Zealand Trust; December 9, 2009; https://www.dermnetnz.org/systemic/acanthosis-nigricans.html. Accessed 8/15/2014.

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