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Genetics Home Reference: your guide to understanding genetic conditions
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Vitiligo

Reviewed January 2015

What is vitiligo?

Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body.

Researchers have identified several forms of vitiligo. Generalized vitiligo (also called nonsegmental vitiligo), which is the most common form, involves loss of pigment (depigmentation) in patches of skin all over the body. Depigmentation typically occurs on the face, neck, and scalp, and around body openings such as the mouth and genitals. Sometimes pigment is lost in mucous membranes, such as the lips. Loss of pigmentation is also frequently seen in areas that tend to experience rubbing, impact, or other trauma, such as the hands, arms, and places where bones are close to the skin surface (bony prominences). Another form called segmental vitiligo is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area; this occurs in about 10 percent of affected individuals.

Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. In people with vitiligo the immune system appears to attack the pigment cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo are also affected by at least one other autoimmune disorder, particularly autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, Addison disease, or systemic lupus erythematosus.

In the absence of other autoimmune conditions, vitiligo does not affect general health or physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected individuals.

How common is vitiligo?

Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent of the population worldwide. While the condition may be more noticeable in dark-skinned people, it occurs with similar frequency in all ethnic groups.

What genes are related to vitiligo?

Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.

The PTPN22 gene provides instructions for making a protein involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection.

The variations in the NLRP1 and PTPN22 genes that are associated with an increased risk of developing vitiligo likely affect the activity of the NLRP1 and PTPN22 proteins, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.

Studies indicate that variations in a number of other genes also affect the risk of vitiligo. Many of these genes are also involved in immune system function or melanocyte biology, and variations in each likely make only a small contribution to vitiligo risk. Some of the gene changes associated with an increased risk of vitiligo have also been associated with an increased risk of other autoimmune conditions.

It is unclear what specific circumstances trigger the immune system to attack melanocytes in the skin. Research suggests that the immune system of affected individuals may react abnormally to melanocytes that are stressed by factors such as chemicals or ultraviolet radiation. In addition, the melanocytes of people with vitiligo may be more susceptible to stress than those of the general population and therefore may be more likely to be attacked by the immune system. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.

Related Gene(s)

Changes in these genes are associated with vitiligo.

  • NLRP1
  • PTPN22

How do people inherit vitiligo?

Vitiligo sometimes runs in families, but the inheritance pattern is complex since multiple causative factors are involved. About one-fifth of people with this condition have at least one close relative who is also affected.

Where can I find information about diagnosis or management of vitiligo?

These resources address the diagnosis or management of vitiligo and may include treatment providers.

  • Genetic Testing Registry: Vitiligo (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0042900)
  • Vitiligo Support International: Vitiligo Treatments and Research (http://www.vitiligosupport.org/treatments_and_research/)

You might also find information on the diagnosis or management of vitiligo in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about vitiligo?

You may find the following resources about vitiligo helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What if I still have specific questions about vitiligo?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding vitiligo?

anemia ; arthritis ; autoimmune ; depigmentation ; diabetes ; gene ; genitals ; immune system ; infection ; inflammation ; inheritance ; inheritance pattern ; injury ; leukoderma ; melanocytes ; mucous ; pigment ; pigmentation ; population ; protein ; psoriasis ; radiation ; stress ; thyroid ; tissue ; trauma ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Boissy RE, Spritz RA. Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff. Exp Dermatol. 2009 Jul;18(7):583-5. doi: 10.1111/j.1600-0625.2008.00826.x. Epub 2009 Mar 6. (http://www.ncbi.nlm.nih.gov/pubmed/19320739?dopt=Abstract)
  • Halder RM, Chappell JL. Vitiligo update. Semin Cutan Med Surg. 2009 Jun;28(2):86-92. doi: 10.1016/j.sder.2009.04.008. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19608058?dopt=Abstract)
  • Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272. (http://www.ncbi.nlm.nih.gov/pubmed/22561518?dopt=Abstract)
  • Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med. 2010 May 6;362(18):1686-97. doi: 10.1056/NEJMoa0908547. Epub 2010 Apr 21. (http://www.ncbi.nlm.nih.gov/pubmed/20410501?dopt=Abstract)
  • Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet. 2010 Jul;42(7):576-8. doi: 10.1038/ng.602. Epub 2010 Jun 6. (http://www.ncbi.nlm.nih.gov/pubmed/20526340?dopt=Abstract)
  • Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol. 2010 Mar;130(3):774-83. doi: 10.1038/jid.2009.273. Epub 2009 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/19727120?dopt=Abstract)
  • LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008 Jul;128(7):1757-62. doi: 10.1038/sj.jid.5701233. Epub 2008 Jan 17. (http://www.ncbi.nlm.nih.gov/pubmed/18200060?dopt=Abstract)
  • Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. doi: 10.1111/j.1755-148X.2008.00443.x. (http://www.ncbi.nlm.nih.gov/pubmed/18426414?dopt=Abstract)
  • Richmond JM, Frisoli ML, Harris JE. Innate immune mechanisms in vitiligo: danger from within. Curr Opin Immunol. 2013 Dec;25(6):676-82. doi: 10.1016/j.coi.2013.10.010. Epub 2013 Nov 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24238922?dopt=Abstract)
  • Smith AG, Sturm RA. Multiple genes and locus interactions in susceptibility to vitiligo. J Invest Dermatol. 2010 Mar;130(3):643-5. doi: 10.1038/jid.2009.403. (http://www.ncbi.nlm.nih.gov/pubmed/20145641?dopt=Abstract)
  • Spritz RA. Recent progress in the genetics of generalized vitiligo. J Genet Genomics. 2011 Jul 20;38(7):271-8. doi: 10.1016/j.jgg.2011.05.005. Epub 2011 Jun 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21777851?dopt=Abstract)
  • Spritz RA. The genetics of generalized vitiligo. Curr Dir Autoimmun. 2008;10:244-57. doi: 10.1159/000131501. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18460890?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2015
Published: September 1, 2015