September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
87 citations
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January 1999 in “British Journal of Dermatology” This study found that trichoblastic fibroma and basal cell carcinoma cannot be differentiated by cytokeratin expression patterns, while trichoepithelioma lacks CK7 expression, distinguishing it from the other two neoplasms.
2 citations
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January 2024 in “Skin Appendage Disorders” In this source, it is suggested that tick saliva, containing anticoagulants like heparins, induces an inflammatory reaction on the scalp that may lead to alopecia.
3 citations
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January 2014 Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
110 citations
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April 2009 in “Cell Motility and the Cytoskeleton” This review discusses the intracellular activity of β-thymosins and their role in modulating the actin cytoskeleton, but it reports no new experimental results.
July 2022 in “Journal of Investigative Dermatology” This study found that a TYK2 inhibitor, BMS-986202, may restore immune privilege in hair follicles and promote hair regrowth in a humanized alopecia areata mouse model by inhibiting IL-12-mediated signaling.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
February 2024 in “Health Sciences” This review discusses the non-cosmetic uses of botulinum neurotoxin A, including its effectiveness for idiopathic hyperhidrosis and potential use for androgenic alopecia, and reports no new clinical results; the authors highlight the need for more clinical trials.
321 citations
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January 2012 in “Cell stem cell” This study identified TGF-β2 as a crucial signal in hair follicle stem cell regeneration, highlighting its role in counteracting BMP signaling to promote tissue regeneration.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
In this summary, the researchers describe the Brazilian keratin treatment as a popular hair-straightening process that originated in Brazil in 2003 and has since gained global traction, particularly for smoothing and straightening curly or frizzy hair through a keratin-based product and heat application.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
January 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” This literature review indicates that tofacitinib, both orally and topically, holds promise as a safe and effective treatment for various dermatological conditions in pediatric patients, though its use requires careful consideration of its benefits and risks.
September 2023 in “British Journal of Dermatology” In this study, researchers found that patients with severe alopecia areata show varied regrowth timelines with baricitinib, and those with the most severe cases may still experience delayed but eventual improvement.
3 citations
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April 2016 in “Journal of Investigative Dermatology” In this open-label trial, tofacitinib showed dramatic clinical responses in most patients with moderate-to-severe alopecia areata, supporting further research into JAK inhibitors for this condition.
7 citations
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January 2014 in “Case reports in pediatrics” This report discusses a case of hair toe tourniquet syndrome in an infant and emphasizes the importance of early diagnosis and treatment to prevent severe complications.
22 citations
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May 2011 in “Molecular Biology of the Cell” In this study, gene inactivation in mouse hair follicle stem cells lacking ILK impaired wound healing by reducing their progeny’s contribution to the regenerating epidermis, but did not affect hair follicle regeneration.
2 citations
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March 2005 in “Cancer biology & therapy” This study found that 95% of untreated advanced-stage follicular lymphoma patients responded to a single course of the Bexxar regimen, with 75% achieving complete remission and remaining disease-free for years.
2 citations
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May 2022 in “International Journal of Trichology” This study identified 43 patients with psoriasiform skin reactions associated with Brazilian Keratin Treatment, suggesting this adverse effect may be underdiagnosed and important to recognize through clinical and dermatoscopic features.
250 citations
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November 2003 in “The Journal of Cell Biology” This study found that BMP receptor IA is crucial for hair progenitor cell differentiation in mice, and its sequential inhibition and activation are necessary to generate a functioning hair shaft.
March 2018 in “Gazi medical journal” This study found that adults with β-thalassemia major had a significantly higher prevalence of skin, hair, and nail disorders compared to healthy controls, influenced by factors like age, gender, and ferritin levels.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.
23 citations
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October 2024 in “British Journal of Dermatology” In this study, ritlecitinib showed sustained effectiveness and a favorable safety profile in treating alopecia areata in patients aged 12 and older over 24 months, with improvements observed in hair and eyebrow regrowth and patient satisfaction.
October 2023 in “Frontiers in medicine” This study analyzed screening data from 218 alopecia areata patients before starting Janus kinase inhibitors, revealing the importance of pre-treatment screening due to risks of infections like tuberculosis and hepatitis B, with 74.8% of patients proceeding to treatment in real-world settings.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
33 citations
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June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
9 citations
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May 2012 in “PLOS ONE” This study found that integrin-linked kinase is crucial for various epidermal functions, including differentiation and barrier formation, and also plays a previously unreported role in melanocyte development and function.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.