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Concept: Alopecia areata

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Alopecia areata (AA) is a common autoimmune disorder mostly presented as round patches of hair loss and subclassified into alopecia totalis/alopecia universalis (AT/AU) based on the area of alopecia. Although AA is relatively common, only 5% of AA patients progress to AT/AU, which affect the whole scalp and whole body respectively. To determine genetic determinants of this orphan disease, we undertook whole-exome sequencing of 6 samples from AU patients, and 26 variants in immune-related genes were selected as candidates. When an additional 14 AU samples were genotyped for these candidates, 6 of them remained at the level of significance in comparison with 155 Asian controls (p<1.92×10(-3)). Linkage disequilibrium was observed between some of the most significant SNPs, including rs41559420 of HLA-DRB5 (p<0.001, OR 44.57) and rs28362679 of BTNL2 (p<0.001, OR 30.21). While BTNL2 was reported as a general susceptibility gene of AA previously, HLA-DRB5 has not been implicated in AA. In addition, we found several genetic variants in novel genes (HLA-DMB, TLR1, and PMS2) and discovered an additional locus on HLA-A, a known susceptibility gene of AA. This study provides further evidence for the association of previously reported genes with AA and novel findings such as HLA-DRB5, which might represent a hidden culprit gene for AU.

Concepts: DNA, Gene, Genetics, Genetic linkage, Autoimmune diseases, Locus, Baldness, Alopecia areata

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The characteristic lesion of alopecia areata is a smooth bald patch on the scalp. When there is no bald surface it is called alopecia areata incognita. To date, all cases of alopecia areata reported as so-called ‘incognito’ have shown a diffuse involvement of the scalp as in acute telogen effluvium. Recently, we have observed two patients who showed localised hair thinning of the scalp without bald spots. Histopathologically, the lesions were typical of alopecia areata with peribulbar lymphocytic infiltrates. The response to corticosteroid treatment and its clinical course were also compatible with alopecia areata.

Concepts: Anatomical pathology, Corticosteroid, Ablative brain surgery, Lesion, Baldness, Alopecia areata, Conditions of the skin appendages, Telogen effluvium

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Alopecia areata (AA) is a common acquired hair disorder showing variable hair loss. Although various prognostic factors have been reported, no evident factors for determining prognosis and appropriate treatment are known.

Concepts: Medical terms, Baldness, Alopecia areata

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To explore the genetic association of single nucleotide polymorphisms(SNP) in the coding region of the NOTCH4, exon 3 C+1297T and exon 5 A+3063G, in a case-control analysis of 58 Rheumatoid arthritis (RA) and 98 Alopecia areata (AA) and 100 ethnically matched healthy subjects. NOTCH4 polymorphisms were genotyped by standard PCR followed by restriction digestion. Analysis of C+1297T SNP revealed a significant association of allele C+1297 (p=0.03,OR=1.66,95%CI1.04-2.64) and Genotype CT (p=0.002,OR=2.82,95%CI 1.42-5.59) with susceptibility to RA. Analysis of A+3063G SNP revealed a significant association of allele A+3063 (p=0.05,OR=0.59,95%CI 0.35-1.008) genotype AA (p=0.002,OR=0.39,95%CI 0.17-0.87) with RA. Over all analysis between Alopecia patients and the studied SNPs failed to show any significant association. Classifying the patients by severity of disease, confined the risk role of CT genotype to the severest form of alopecia universalis (p=0.006,OR=3.82,95%CI 1.39-3.82) and AG genotype to semiuniversalis alopecia(p=0.004,OR=4.3,95%CI 1.5-15.3). Present study is the first to report a statistically significant association between RA and NOTCH4 polymorphisms.

Concepts: DNA, Gene, Genetics, Genotype, Statistics, Rheumatoid arthritis, Statistical hypothesis testing, Alopecia areata

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There is a very limited amount of data available regarding the relationship between alopecia areata (AA) and psychiatric morbidity and quality of life (QoL) in children and adolescents.

Concepts: Life, Quality, Quality of life, Quality-of-life index, Alopecia areata

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Alopecia areata is a common hair loss condition that is often emotionally devastating for patients. There is a paucity of effective treatments available. Hydroxychloroquine has been reported as variably effective in inducing significant hair regrowth in adults with alopecia areata. The objective of this retrospective study was to assess the benefit and tolerability of hydroxychloroquine in pediatric alopecia areata.

Concepts: Baldness, Alopecia areata

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Clostridium difficile infections can be life-threatening but are increasingly being treated successfully with fecal microbiota transplantation (FMT). We report two patients with alopecia universalis who developed subsequent hair regrowth after FMT for treatment of recurrent C. difficile infections. Gut microbiota may have immunomodulatory effects in autoimmune conditions such as alopecia areata, and further study may elucidate disease mechanisms and lead to alternative treatment options for these patients for whom treatment options are currently limited.

Concepts: Immune system, Gut flora, Infection, Probiotic, Clostridium difficile, Clostridium, Baldness, Alopecia areata

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Alopecia areata (AA) is an autoimmune disease characterized by hair loss mediated by CD8(+) T cells. There are no reliably effective therapies for AA. Based on recent developments in the understanding of the pathomechanism of AA, JAK inhibitors appear to be a therapeutic option; however, their efficacy for the treatment of AA has not been systematically examined.

Concepts: Medicine, Cure, Autoimmune diseases, Baldness, Alopecia areata

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BACKGROUND. Alopecia areata (AA) is a common autoimmune disease with a lifetime risk of 1.7%; there are no FDA-approved treatments for AA. We previously identified a dominant IFN-γ transcriptional signature in cytotoxic T lymphocytes (CTLs) in human and mouse AA skin and showed that treatment with JAK inhibitors induced durable hair regrowth in mice by targeting this pathway. Here, we investigated the use of the oral JAK1/2 inhibitor ruxolitinib in the treatment of patients with moderate-to-severe AA. METHODS. We initiated an open-label clinical trial of 12 patients with moderate-to-severe AA, using oral ruxolitinib, 20 mg twice per day, for 3-6 months of treatment followed by 3 months follow-up off drug. The primary endpoint was the proportion of subjects with 50% or greater hair regrowth from baseline to end of treatment. RESULTS. Nine of twelve patients (75%) demonstrated a remarkable response to treatment, with average hair regrowth of 92% at the end of treatment. Safety parameters remained largely within normal limits, and no serious adverse effects were reported. Gene expression profiling revealed treatment-related downregulation of inflammatory markers, including signatures for CTLs and IFN response genes and upregulation of hair-specific markers. CONCLUSION. In this pilot study, 9 of 12 patients (75%) treated with ruxolitinib showed significant scalp hair regrowth and improvement of AA. Larger randomized controlled trials are needed to further assess the safety and efficacy of ruxolitinib in the treatment of AA. TRIAL REGISTRATION. Clinicaltrials.gov NCT01950780. FUNDING. Locks of Love Foundation, the Alopecia Areata Initiative, NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the Irving Institute for Clinical and Translational Research/Columbia University Medical Center Clinical and Translational Science Award (CUMC CTSA).

Concepts: Immune system, Gene, Gene expression, Clinical trial, Randomized controlled trial, ClinicalTrials.gov, Alopecia areata, National Institute of Arthritis and Musculoskeletal and Skin Diseases

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Alopecia areata (AA) is one of the most common autoimmune diseases and targets the hair follicles, with high impact on the quality of life and self-esteem of patients due to hair loss. Clinical management and outcomes are challenged by current limited immunosuppressive and immunomodulating regimens.

Concepts: Medicine, Death, Life, Chemotherapy, Autoimmune diseases, Alopecia, Baldness, Alopecia areata