Vitiligo or leukoderma is a chronic skin disease that causes loss of pigment, resulting in irregular pale patches of skin. It occurs when the melanocytes, cells responsible for skin pigmentation, die or are unable to function. The precise cause of vitiligo is complex and not fully understood. There is some evidence suggesting it is caused by a combination of auto-immune, genetic, and environmental factors. The population incidence worldwide is considered to be between 1% and 2%.
According to Diseases Database: "A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached."
Vitiligo is associated with autoimmune and inflammatory diseases, commonly thyroid overexpression and underexpression. Jin in the New England Journal of Medicine reported a study comparing 656 people with and without vitiligo in 114 families, which found several mutations (single-nucleotide polymorphisms) in the NALP1 gene. The NALP1 gene, which is on chromosome 17 located at 17p13, is on a cascade that regulates inflammation and cell death, including myeloid and lymphoid cells, which are white cells that are part of the immune response. NALP1 is expressed at high levels in T cells and Langerhan's cells, white cells that are involved in skin autoimmunity.
Among the inflammatory products of NALP1 are caspase 1 and caspase 5, which activate the inflammatory cytokine interleukin-1β. Interleukin-1β is expressed at high levels in patients with vitiligo. There are compounds which inhibit caspase and interleukin-1β, and so might be useful drugs for vitiligo and associated autoimmune diseases.
Of the 656 people, 219 had vitiligo only, 70 had vitiligo with autoimmune thyroid disease, and 60 had vitiligo and other autoimmune diseases. Addison's disease (typically an autoimmune destruction of the adrenal glands) may cause vitiligo.
In one of the mutations, the amino acid leucine in the NALP1 protein was replaced by histidine (Leu155->His). The original protein and sequence is highly conserved in evolution, and found in humans, chimpanzee, rhesus monkey, and bush baby, which means that it's an important protein and an alteration is likely to be harmful.
The following is the normal DNA and protein sequence in the NALP1 gene:
In some cases of vitiligo the first leucine is altered to histidine, by a Leu155→His mutation:
(Leucine is nonpolar and hydrophobic; histidine is positively charged and hydrophilic, so it is unlikely both serve the same function.)
The normal sequence of the DNA code for NALP1 of TCACTCCTCTACCAA is replaced in some of these vitiligo families by the sequence TCACACCTCTACCAA, which respectively code for the amino acid sequence of the normal NALP1 protein SLLYQ being replaced by SHLYQ.
In some cultures there is a stigma attached to having vitiligo. Those affected with the condition are sometimes thought to be evil or diseased and are sometimes shunned by others in the community. People with vitiligo may feel depressed because of this stigma or because their appearance has changed dramatically. Other people with vitiligo experience no negative psychological effects at all.
The traditional treatment given by most dermatologists is cortico steroid cream.
Phototherapy may also be beneficial. Using exposure to long-wave ultraviolet (UVA) light from the sun or from UVA, together with Psoralen, called "PUVA", Or with UVB Narrowband lamps (without Psoralen), can help in many cases. Psoralen can be taken in a pill 1-2 hours before the exposure or as a Psoralen soaking of the area 1/2 hour before the exposure. Lately, PUVA is being more and more replaced with exposure UVB Narrowband light at a wavelength of 311-313 nanometers. This treatment does not involve Psoralen since the effect of the lamp is strong enough. The source for the UVB Narrowband UVB light can be special fluorescent lamps that treat large areas in a few minutes, or high power fiber-optic devices in a fraction of a second.
Alternatively, some people with vitiligo opt for chemical depigmentation, which uses 20% monobenzone (monobenzylether of hydroquinone). This process is irreversible and generally ends up with complete or mostly complete depigmentation.
In late October 2004, doctors successfully transplanted melanocytes to vitiligo affected areas, effectively repigmenting the region. The procedure involved taking a thin layer of pigmented skin from the patient's gluteal region. Melanocytes were then separated out and used to make a cellular suspension. The area to be treated was then ablated with a medical laser, and the melanocyte graft applied. Three weeks later, the area was exposed to UV light repeatedly for two months. Between 73 and 84 percent of patients experienced nearly complete repigmentation of their skin. The longevity of the repigmentation differed from person to person.
In early 2008 scientists at King's College London discovered that piperine, a chemical derived from black pepper can aid repigmentation in skin, especially when combined with UV therapy produces a longer lasting and more even pigmentation than previous treatments
Vitiligo Support International is the largest vitiligo organization in the world. The nonprofit organization provides free access to online message boards, chat rooms, frequently asked questions, information and articles, as well as a patient-referred doctor search. The group advocates on behalf of patients, conducts patient conferences and has local support groups.
The National Vitiligo Foundation (NVF) is a 501(c)(3) nonprofit organization that provides access to online resources, physician listings, frequently asked questions (etc); funds research through grants and sponsors local support groups and workshop style conferences.
The American Vitiligo Research Foundation Inc. (AVRF) is a non-profit, tax-exempt charity that aims to increase public awareness about vitiligo and to help those affected by vitiligo, focusing specifically on children and their families. It supports finding a cure through alternatives to animal research.
The Vitiligo Society is the only organisation which offers support and information to people with vitiligo and their families in the UK and Republic of Ireland
Vitiligo along with poliosis is seen as a familial trait in domestic animals. It is especially common in Arabian horses (called Arabian Pinky Syndrome) and in Rottweiler dogs. It may also cause constant itching in very rare cases.