4. Discussion
Vitiligo is an acquired depigmentation disorder of skin and hair. It is a cosmetically disfiguring disease caused due to melanocytes destruction [Moretti et al., 2002], however, the pathogenesis of such disease is still conflicting. Many previous studies tried to explain the pathogenesis according to many points of view, they showed that it could either be an autoimmune mechanism, a neural dysfunction, metabolic mechanism, or genetic causes [Moretti et al., 2002, Zhang et al,2005, Yazici et al., 2006].
In this study, we decided to assess the genetic factor in vitiligo pathogenesis. Our study detected a non-significant association between IFN-γ +874A/T or +2109A/G gene polymorphism and vitiligo susceptibility. In line with our finding Dwivedi, et al,2013 couldn 't consider IFN- γ +874 T/A polymorphism as a genetic risk factor for generalized vitiligo. Also, an Iranian study, couldn’t confirm a relation between IFN- γ +874 T/A gene polymorphism and vitiligo risk [Namian et al., 2009].
When we studied the different haplotype frequencies of INF-γ (+874A/T) and INF-γ (+2109A/G) polymorphisms in vitiligo patients and control distributions, we observed a significant elevation of the haplotype TA in vitiligo patients when compared with control group (P < 0.03), this indicated increased risk of vitiligo with this haplotype. To the best of our knowledge, no previous studies were done to assess IFN-γ +2109A/G gene polymorphism in relation to vitiligo and no
My results indicated that I’m heterozygous to carrying Jacobsen syndrome trait. I’m homozygous to having or passing along with brownish eyes and carrying hypertension (or susceptible to getting it). Jacobsen syndrome is when a
Melanoma is caused by over exposure to UV which can sometimes cause sunburn, it can be especially critical to those whom are inclined to the disease itself. The tumours derive in the pigment-producing melanocytes which are inside the basal layer of the
In 1665, a scientist named Marcello Malpighi came up with the idea that the skin coloring was mainly dteremined from the granules of the stratum mucosum, not by those of the stratum corneum of the dermis. In 1879, Moritz Kaposi was the first man to observe the lack in pigmentation in the rete pegs of vitiligo. Rete pegs are epithelial extensions that project into the connective tissue in the skin and the mucous membrane. About 4000 years of knowledge about vitiligo has been recorded and observed from the time man first noticed the white patches appearing on the skin until the melanocyte was determined as the actor for causing the depigmentation in the skin.
The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).
Thirty hair samples that had ample skin tags were selected for mtDNA complete genome sequencing and for HV region sequencing to determine the haplogroup of the samples. The samples were sent to Family Tree DNA for sequencing. The source of the samples was withheld from Family Tree
Humoral and cellular autoimmunity play a huge role in the appearance of vitiligo. Studies have found that are some major key things that play into this disease developing such as oxidative stress damage, autotoxicity, and neurohumoral
Vitiligo is a continual and long term skin problem that causes white depigmentation on your skin. The white patches appear due to melanocytes within the skin dying off. Melanocytes are cells that reproduce causing pigment, if you lack melanocytes then you will have white patches. Melanin, which gives your skin color also protect you from the sun’s UV rays. Vitiligo affects people differently; there is not an exact place where you can have it. You can have it all over your body, hair, mouth, and even eyes.
People of all races may be effected, mostly between the ages of 20. Dark skin people are mainly known to be affected by it. It may also run in the family, and children are more likely to develop it, but not always hereditary. If there is a family history of the condition or delaying graying of the hair there is a higher chance that they will develop vitiligo. It may also affect someone who suffers from other diseases, such as Thyroid disease, also known as Hashimoto’s thyroiditis.
The blood cells of the patient did not show mosaicism, and the patient’s skin symptoms were fairly evenly distributed over the entire body surface. These findings suggest that the patient was not mosaic for the GJB2 mutation.
Vitiligo is a common dermatological disorder characterized by acquired, idiopathic, progressive, circumscribed hypomelanosis of the skin and hair, with total absence of melanocytes microscopically.[1] Various physiological, biochemical, histochemical and enzymatic studies have been done to find out the cause of the disease.[2] Genes certainly play a role in all aspects of vitiligo pathogenesis, even response to environmental triggers, and so genetics really should not be separated out as a distinct phenomenon. [3],[4] In the past few years, studies of the genetic epidemiology of generalized vitiligo have led to the recognition that vitiligo is part of a broader, genetically determined, autoimmune, and auto inflammatory diathesis. [3],[5] The pathogenesis of this disorder is uncertain, but it appears to be dependent on the interaction of genetic, immunological, and neurological
Vitiligo is an autoimmune diseases, in which the melanocytes or pigment cells are embattled and destroyed. An autoimmune disease occurs, when one’s immune system is attacking itself in his or her body. However, there is not a cure for vitiligo, therefore he or she will live with this skin disease of their life. People who have vitiligo rarely die from it. Vitiligo is a cosmetic condition so it can affect them mentally
Human pigmentation is influenced by hemoglobins within blood vessels in the skin, carotene and melanins. Melanin, the basis of pigmentation, can be found in the forms of eumelanin and phaeomelanin. Eumelanin is the brown-black pigment located in the skin, hair, and eyes. Phaeomelanin is a yellow to reddish-brown pigment found in small quantities within the skin, eyes, and red hair. Because of these two pigments, to a greater or lesser degree, we have the variation
Although very informative, I nearly lost interest in the subject as it was a bit dry, however, with the incorporation of pictures, I was able to grasp the science of how this structure functions and the significance of melanin, “the most important substance imparting color to skin” (9). Melanin is formed in cells called melanocytes, located between the dermis and epidermis; these cells produce different amounts of melanin and this is the main reason why people have different skin colors (11,14). The author breaks down the scientific terms in a clear and coherent
Albinism is caused by a mutation in one of several genes. It also has a defect in one of several genes that produce or distribute melanin. Melanin is the pigment responsible for the color of the skin, hair and eyes. People who have albinism are more susceptible to developing skin cancer because there is a lack of melanin produced in the body. Melanin also plays a huge role in the eyes, so the lack of pigment causes them to be extremely sensitive to light, according to the article “Albinism” last updated on May 24, 2016.
Melanism is a heritable trait that is dominant for Carbonaria and recessive for Typica. There is another allele that is on the same locus for melanism. This allele forms the Insularia variety and is recessive to the Carbonaria allele and dominant to the Typica allele (Cook et al 2012). Because