January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
17 citations
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September 2010 in “Pediatric dermatology” This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.
December 2000 in “Journal of the Royal Society of Medicine” Antiandrogen therapy may help treat hidradenitis suppurativa.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
176 citations
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June 2016 in “PLoS ONE” In these initial clinical studies, NAP monotherapy showed significant reductions in HBsAg levels among patients with chronic HBV, suggesting potential as part of future combination therapies.
1 citations
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June 2019 in “Journal of Biological and Scientific Opinion” This article highlights the health risks associated with adding paraphenylenediamine to mehndi, such as contact dermatitis and asthma, and emphasizes the need for regulatory checks as its use grows among cancer patients, women with alopecia, and pregnant individuals.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This paper outlines the chronic inflammatory skin disorder hidradenitis suppurativa, emphasizing its symptomatology, associated systemic diseases, known risk factors, and treatment strategies, including medical and surgical interventions depending on disease severity, while highlighting its significant impact on patients' quality of life.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
41 citations
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May 2020 in “Frontiers in immunology” This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
4 citations
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January 2025 in “Diagnostics” This article reviews the use of high-frequency ultrasonography to visualize nail units and scalps in dermatology, highlighting its potential benefits for disease assessment and treatment monitoring, but reports no new clinical results.
This study found that in an ex vivo model simulating alopecia areata, the DHODH inhibitor farudodstat reduced T-cell proliferation and MHC protein expression in hair follicles, suggesting it may protect against immune privilege collapse without cytotoxic effects.
27 citations
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December 2015 in “Clinical and Experimental Dermatology” This study found that hair regrowth occurred in 72.2% of alopecia areata patients treated with diphencyprone, with disease extent at baseline and duration affecting outcomes.
4 citations
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January 2021 in “Archives of dermatological research” This study developed a new human hair research model combining 3D spheroid dermal papilla fibroblasts with plucked anagen hair shafts, potentially improving the evaluation of hair follicle differentiation.
3 citations
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February 2016 in “Pediatric dermatology” This report describes two cases of Rapp–Hodgkin ectodermal dysplasia where refractory scalp erosions improved significantly with potent topical steroids; it also suggests a potential link between these scalp conditions and erosive pustular dermatosis of the scalp in elderly patients.
July 2020 in “Nepalese journal of ophthalmology” This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
January 2024 in “Advances in Dermatology and Allergology” This review explores the inflammatory pathogenesis and clinical presentation of hidradenitis suppurativa, highlighting the complexity of treatment and the impact on patients' quality of life, while also examining emerging therapeutic options.
March 2026 in “Indian Dermatology Online Journal” This report details a case study where a 40-year-old woman experienced allergic contact dermatitis and angioedema-like symptoms after using PPD-containing hair dye. Patch testing confirmed a positive reaction to PPD, highlighting the substance's potential to cause both T-cell and IgE-mediated hypersensitivity reactions.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
May 2026 in “European Cells and Materials” In this study, researchers developed a novel delivery system using hyaluronic acid gels to encapsulate Huperzine A for Alzheimer's treatment, achieving extended release over 20 days and significantly improving pathology and behavior in mice, including enhanced memory and reduced neuroinflammation.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
18 citations
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October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” This study found that diagnosing non-classical 3 beta-hydroxysteroid dehydrogenase deficiency solely based on elevated serum or urinary 5-ene-steroids may not be reliable.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.