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Genetics Home Reference: your guide to understanding genetic conditions
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Vitiligo

Reviewed December 2010

What is vitiligo?

Vitiligo is a condition that causes patchy changes in skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-20s, 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, 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 orifices such as the mouth and genitals. 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). Segmental vitiligo is associated with patches of depigmented skin that appear on one side of the body. When the depigmented areas cover almost the entire body, the condition is often known as universal vitiligo.

Other terms are used to describe vitiligo that involves localized areas of pigment loss. In focal vitiligo, one or a few depigmented spots appear in a specific area of the body, usually on the face, neck, or trunk; this localized involvement may progress to generalized or segmental vitiligo. Acrofacial vitiligo is a subcategory of generalized vitiligo in which the pigment loss generally occurs on the fingers and face. Mucosal vitiligo involves pigment loss only in the mucous membranes, such as the lips.

In some people with vitiligo, depigmentation occurs gradually in some patches of skin, so that affected individuals have patches of normally pigmented skin, completely depigmented skin, and skin of an intermediate color. This form of the condition is called trichrome vitiligo.

Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with vitiligo the immune system appears to damage the pigment cells (melanocytes) in the skin. About 20 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 the NLRP1 and PTPN22 genes have been associated with an increased risk of developing vitiligo. Studies have suggested that variations in a number of other genes may also affect the risk of vitiligo, but most of these associations have not been confirmed. Many of these genes are involved in immune system function. 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. 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.

  • American Vitiligo Research Foundation: Vitiligo Treatments (http://www.avrf.org/treatments/treatments.htm)
  • 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 (http://www.ghr.nlm.nih.gov/condition/vitiligo/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/vitiligo/show/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 (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding vitiligo?

anemia ; arthritis ; autoimmune ; depigmentation ; diabetes ; gene ; genitals ; immune system ; inheritance ; inheritance pattern ; leukoderma ; lupus ; melanocytes ; mucous ; pigment ; pigmentation ; population ; psoriasis ; rheumatoid arthritis ; systemic lupus ; systemic lupus erythematosus ; thyroid ; trauma

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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, 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, Spritz RA. Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol. 2007 Nov;127(11):2558-62. Epub 2007 Jul 19. (http://www.ncbi.nlm.nih.gov/pubmed/17637824?dopt=Abstract)
  • Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22;356(12):1216-25. (http://www.ncbi.nlm.nih.gov/pubmed/17377159?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)
  • Matz H, Tur E. Vitiligo. Curr Probl Dermatol. 2007;35:78-102. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17641492?dopt=Abstract)
  • Passeron T, Ortonne JP. Physiopathology and genetics of vitiligo. J Autoimmun. 2005;25 Suppl:63-8. Epub 2005 Nov 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16298511?dopt=Abstract)
  • Rezaei N, Gavalas NG, Weetman AP, Kemp EH. Autoimmunity as an aetiological factor in vitiligo. J Eur Acad Dermatol Venereol. 2007 Aug;21(7):865-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17658994?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. 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)
  • Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17630960?dopt=Abstract)
  • Taïeb A. NALP1 and the inflammasomes: challenging our perception of vitiligo and vitiligo-related autoimmune disorders. Pigment Cell Res. 2007 Aug;20(4):260-2. (http://www.ncbi.nlm.nih.gov/pubmed/17630958?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: December 2010
Published: May 13, 2013