A Case of Alopecia Areata in a Patient with Turner Syndrome.
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ABSTRACT:
SUBMITTER: Gianfaldoni S
PROVIDER: S-EPMC5535667 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:Alopecia areata (AA) is a common non-scarring hair loss condition whose specific pathogenesis is not yet fully understood. In children, AA often co-occurs with atopic dermatitis (AD), complicating treatment. Here, we report the case of a child with myasthenia gravis who had severe AA and moderate AD. The child had previously been treated with local injections of corticosteroids and developed total hair loss and AD after discontinuing corticosteroid use. After approximately one year of treatment with baricitinib, 4 mg once daily, combined with twice-daily application of a corticosteroid ointment, a significant improvement in the child's condition was observed, with the Severity of Alopecia Tool score dropping from 100 to 24.4 and Eczema Area Severity Index score to 0. New vellus hairs were clearly observable under trichoscopy, which contrasted significantly with the pre-treatment state. Throughout the treatment process, the patient's clinical symptoms, blood cell counts, liver and kidney function, and coagulation functions were essentially normal, with no significant adverse reactions observed except for folliculitis on the scalp. We discuss common targets in the pathogenesis of AA and AD as well as the safety and prospects of Janus kinase inhibitors for the treatment of pediatric patients with these conditions.
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Project description:IntroductionIndividuals with alopecia areata (AA) may experience significant impacts on their health-related quality of life. The novel Alopecia Areata Patient Priority Outcomes (AAPPO) questionnaire has been developed to assess hair loss signs, emotional symptoms, and activity limitations associated with AA. The objective of this study was to evaluate psychometric properties and establish scoring of the AAPPO in adults and adolescents with AA.MethodsScoring and measurement properties of the AAPPO were examined using baseline and 2-week follow-up data from a prospective, noninterventional, web-based study of 121 patients with AA (85 adults aged ≥ 18 years, 36 adolescents aged 12-17 years) with Severity of Alopecia Tool (SALT) ≥ 25% scalp hair loss.ResultsExploratory and confirmatory factor analysis supported four single Hair Loss (HL) items, an Emotional Symptoms domain (ES; 4 items), and an Activity Limitations domain (AL; 3 items). Among all patients, the multi-item ES and AL domains had strong internal consistency (α ≥ 0.87); all HL items and domain scores had strong test-retest reliability (weighted kappa or intraclass correlation coefficients ≥ 0.78). All HL item scores demonstrated strong construct validity (r ≥ 0.52) compared with the patient-reported Alopecia Areata Symptom and Impact Scale (AASIS) hair loss subscale score; ES and AL domain scores exhibited strong construct validity (r ≥ 0.66) compared with the SF-36 Mental Component Summary (MCS) score. Using SALT scores, HL mean item scores were better (lower) in the 25-49% SALT subgroup versus those with highest SALT scores (76-100%); however, ES mean domain scores were better in the SALT 76-100% subgroup in the same comparison (p < 0.0001). Using AASIS and MCS score-created subgroups, ES and AL mean domain scores demonstrated hypothesized differences across subgroups (all p values < 0.0001).ConclusionThe AAPPO questionnaire is a reliable, valid disease-specific measure of hair loss severity and impact in individuals with AA.
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Project description:Alopecia areata is an autoimmune disorder characterized by transient, non-scarring hair loss and preservation of the hair follicle. Hair loss can take many forms ranging from loss in well-defined patches to diffuse or total hair loss, which can affect all hair-bearing sites. Patchy alopecia areata affecting the scalp is the most common type. Alopecia areata affects nearly 2% of the general population at some point during their lifetime. Skin biopsies of affected skin show a lymphocytic infiltrate in and around the bulb or the lower part of the hair follicle in the anagen (hair growth) phase. A breakdown of immune privilege of the hair follicle is thought to be an important driver of alopecia areata. Genetic studies in patients and mouse models have shown that alopecia areata is a complex, polygenic disease. Several genetic susceptibility loci were identified to be associated with signalling pathways that are important to hair follicle cycling and development. Alopecia areata is usually diagnosed based on clinical manifestations, but dermoscopy and histopathology can be helpful. Alopecia areata is difficult to manage medically, but recent advances in understanding the molecular mechanisms have revealed new treatments and the possibility of remission in the near future.
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Project description:Alopecia areata (AA) is a common non-scarring hair loss disease of defined patterns with varied patches size and body sites. The etiology of AA has a complex basis of autoimmunity, environment, and genetic variations. The latter factor is found to play a crucial role in AA risk. Thus, this study aimed to investigate the potential impact of specific immune-related gene polymorphisms among a cohort of Jordanian patients, which was previously reported in other populations. Blood samples of AA patients and control subjects were collected for genomic DNA (gDNA) extraction. Targeted single nucleotide polymorphisms (SNPs) of MASP2, TLR1, CTLA4, and C11orf30 were genotyped in duplicate using the Sequenom MassARRAY® system (iPLEX GOLD). Genotype and allele analysis reveals statistical differences in TLR1 rs4833095 (allele C, P = 0.044), MASP2 rs2273346 (genotype AA, P = 0.0026), and C11orf30 rs2155219 (genotype GG, P = 0.0069) distribution. These findings present the significant contribution of genetic variations in AA susceptibility in the Jordanian population, which is infrequently studied.
| S-EPMC8980757 | biostudies-literature
Project description:Our goal was to develop a transcriptomic description of affected alopecic scalp skin from patients with alopecia areata. 5 biological replicates of skin samples from 5 separate AA patients compared with 5 similar scalp samples from healthy control patients
2014-08-17 | E-GEOD-45512 | biostudies-arrayexpress
Project description:Ritlecitinib is an oral Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma (JAK3/TEC) family kinase inhibitor approved for the treatment of severe alopecia areata (AA). Benefit-risk profiles of two doses of ritlecitinib (50 mg vs 30 mg once daily) were evaluated by integrating patient preferences and clinical efficacy and safety estimates for ritlecitinib. A discrete-choice experiment (DCE) was utilized to elicit preferences for benefit and safety attributes of systemic AA treatments. Benefits included probabilities of ≥80% scalp hair coverage and achieving moderate to normal eyebrows and eyelashes. Potential risks included 3-year probabilities of serious infection, cancer, and blood clots. Preference estimates were used to calculate the maximum acceptable risk (MAR) that patients would accept for expected increases in benefit from choosing a higher ritlecitinib dose over a lower dose. Ritlecitinib benefits were calculated from the ALLEGRO-2b/3 clinical trial. MARs were calculated separately for each risk and jointly for all possible combinations. Adults (n = 201) with physician-confirmed ≥50% scalp hair loss from AA participated. To achieve expected increases in the probabilities of ≥80% scalp hair coverage or moderate to normal eyebrows and eyelashes when choosing 50 mg over 30 mg of ritlecitinib, patients would be willing to accept increases in each 3-year risk up to a mean of 3.88 absolute percentage points (95% confidence interval [CI], 2.86-4.90) for serious infection, 1.63 (95% CI, 1.08-2.18) for cancer, and 5.30 (95% CI, 3.60-7.00) for blood clots. These results, combined with the estimated differences in risks between the two doses, indicate that patients with AA value increases in the probabilities of scalp, eyebrow, and eyelash hair regrowth, with the average patient accepting increases in potential treatment-related risks for the 50-mg dose in exchange for higher efficacy than 30 mg. The DCE approach to measuring risk tolerance, combined with comparisons to expected benefit and risk differences, can be used to optimize AA treatment dose selection.
| S-EPMC11883726 | biostudies-literature
Project description:Alopecia areata (AA) is a common disease characterized by nonscarring hair loss. There are no satisfactory therapies for extensive cases. Systemic immune suppressants are usually used despite their nonspecific actions and often associated side effects. Apremilast is an oral, small-molecule, inhibitor of phosphodiesterase 4 approved for the treatment of psoriasis and psoriatic arthritis. Its use in AA has shown variable results. Whereas a recent reduced clinical trial concluded a lack of efficacity, several case reports demonstrate a significant improvement. We report four cases of extensive AA successfully treated with apremilast.
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Project description:The number of alopecia areata (AA) clinical trials with Jak inhibitors of cytoplasmic tyrosine kinases, including Jak1, Jak2, Jak3, and tyrosine-protein kinase has increased significantly since the last Research Summit. This fact means that the conversation about current treatments for AA now also needs to include a discussion of traditionally used off-label therapies as well as evolving therapies as with Jak inhibitors.
| S-EPMC11549921 | biostudies-literature
Project description:This contemporary scoping narrative review examines the epidemiology of pediatric alopecia areata (AA), focusing on incidence, prevalence, racial and ethnic differences, and comorbidities. Articles containing original epidemiology on pediatric AA published between 2013 and 2024 were identified. From these studies, the estimated US child and adolescent incidence of AA is between 13.6 and 33.5 per 100,000 person-years, and the prevalence of AA is between 0.04% and 0.11%. Incidence and prevalence rates vary widely by geographic region and nation. A general pattern of highest estimated lifetime prevalence in North African and Middle Eastern nations, followed by high-income North American countries, then by Asian and Western European nations, and, lastly, by Latin America and sub-Saharan Africa emerged. Though infrequently reported, racial and ethnic differences were noted in the largest pediatric-specific studies: Hispanic/Latino, Black, and Asian children were affected by AA at higher rates compared to those who self-identify as White/Caucasian. AA carried a high burden of comorbidities, including atopic disease, vitiligo, mental illness, and thyroid conditions. The existing pediatric epidemiology can help identify potential disparities in care and guide additional research, advocacy, and policy.
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