46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
September 2026 in “JAMA Dermatology” In this study, US-based experts reached a consensus on treating adults with severe alopecia areata, recommending oral Janus kinase inhibitors as the primary long-term therapy, while also suggesting supplemental treatments like minoxidil and corticosteroids, with a call for more research on specific patient subpopulations.
June 2026 in “Frontiers in Immunology” In this case report, a 57-year-old man with severe atopic dermatitis, vitiligo, and alopecia areata showed rapid and significant improvement after treatment with the JAK1 inhibitor upadacitinib, suggesting its potential as an effective monotherapy for these co-existing conditions when conventional therapies fail.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
83 citations
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June 2017 in “Journal of the American Academy of Dermatology” This study observed that most pediatric patients with alopecia areata experienced some hair regrowth after treatment with topical JAK inhibitors, and the formulations were generally well-tolerated with mild lab abnormalities in some cases.
June 2026 in “JAAD Case Reports” June 2003 in “Clinical orthopaedics and related research” This case study reports a rare instance of Majocchi's granuloma caused by Candida, highlighting the patient's diabetes mellitus and kidney transplant as predisposing factors for the infection.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
1 citations
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January 2023 in “Portuguese Journal of Dermatology and Venereology” This review covers the use of JAK inhibitors in treating various dermatological conditions, emphasizing their potential while noting ongoing safety concerns with oral treatments; no new clinical results are provided.
February 2024 in “Australasian journal of dermatology” This research letter discusses the use of Janus kinase inhibitors for treating lichen planopilaris, although specific results or conclusions from the study are not provided.
159 citations
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October 2015 in “Science Advances” This study observed that applying JAK-STAT pathway inhibitors to mouse and human skin led to rapid hair growth by inducing the anagen phase of hair follicles.
November 2025 in “Scholarly Commons (Embry–Riddle Aeronautical University)” This review discusses how urban air pollutants may influence the regulation of JAK3 signaling in alopecia areata and reports no new experimental results; the authors integrate existing data to map potential pathways and biomarkers.
5 citations
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June 2008 in “British Journal of Dermatology” April 2016 in “Journal of Investigative Dermatology” CD73 may regulate hair growth and could be targeted for hair growth treatments.
This study found that combining Ganoderma lucidum extract with microneedle therapy promoted hair growth in a mouse model of alopecia more effectively than microneedle therapy alone.
40 citations
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September 2018 in “Journal of the American Academy of Dermatology” This letter discusses the emerging use of Janus kinase inhibitors, specifically oral tofacitinib, for treating alopecia areata in children, but reports no new clinical findings.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
April 2018 in “Journal of Investigative Dermatology” This study found that treating human dermal fibroblast cells with ginsenoside Rd increased the expression of mRNA associated with the dermal-epidermal junction, suggesting potential as an anti-aging cosmetic ingredient.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
14 citations
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January 2020 in “Mediterranean Journal of Rheumatology” This review discusses the development of Janus kinase inhibitors for dermatologic diseases and reports no new results; the authors note the need for further research on their efficacy and safety.
November 1968 in “Journal of the American Pharmaceutical Association”
5 citations
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January 2021 in “Inflammatory Bowel Diseases” In this report, a female patient with ulcerative colitis, alopecia areata, and pyoderma gangrenosum showed improvement in all three conditions after being treated with tofacitinib.
8 citations
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December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
August 2026 in “Scientific Reports” This study suggests that a Lentinula edodes extract can improve skin barrier function, hydration, and sebum regulation, possibly by modulating vitamin D pathways, in individuals with oily and acne-prone skin.
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
May 2026 in “Journal of Dermatological Treatment” In this study, adults with significant alopecia areata were surveyed on their preferences for JAK inhibitor treatments, revealing a strong priority for scalp hair regrowth effectiveness and quicker initial regrowth over dosing convenience.
April 2025 in “The Journal of Dermatology” This study provides initial insights into the use of JAK inhibitors for CTCL, reporting some cases of symptom improvement, but highlights the need for further research on their association with CTCL development and safety.
July 2026 in “Frontiers in Immunology” In this case report, a 28-year-old male with severe atopic dermatitis, prurigo nodularis-like lesions, and alopecia areata showed rapid improvements in skin and hair following treatment with the JAK1 inhibitor, ivarmacitinib, suggesting its potential benefit for complex AD phenotypes with immune-mediated hair loss.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
3 citations
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March 2002 in “Linchuang pifuke zazhi” This study analyzed clinical manifestations of dermatomyositis in 18 patients, reporting common symptoms such as skin rash, proximal muscle weakness, and elevated serum markers, with treatment typically involving prednisolone and hydroxychloroquine.