1 citations
,
September 2019 in “Journal of Investigative Dermatology” This study found that combining human dermal papilla fibroblasts with hair matrix cells formed organoids capable of limited hair follicle development in ex vivo skin, but not fully formed hair follicles.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
35 citations
,
November 2024 in “Gels” This review discusses hydrogel-forming microneedles for non-invasive drug delivery in dermatology and reports no new clinical results, emphasizing their promise in improving treatment adherence and patient comfort.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
42 citations
,
April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
August 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses how activating the hexosamine pathway may enhance skin homeostasis by increasing hyaluronic acid secretion and supporting hair follicle stem cell self-renewal, but reports no new results.
11 citations
,
March 2008 in “Experimental Dermatology” This study identified a thiazolidine dione derivative as a potential inhibitor of 15-PGDH that may enhance prostaglandin activity in hair follicles, suggesting its use to support hair regrowth treatments.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
May 2023 in “Journal of the Dermatology Nurses' Association” This editorial discusses the experiences and highlights of the Dermatology Nurses' Association's annual convention, including educational sessions about skin conditions and nursing strategies, and emphasizes the importance of continuing education and involvement in health policy and advocacy for dermatology nursing professionals.
3 citations
,
December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
3 citations
,
April 2025 in “Advanced Healthcare Materials” In this study, researchers developed hyaluronic acid derivatives functionalized with nitric oxide photodonors for light-activated skin treatments, finding that the compounds released NO under blue light and enhanced keratinocyte proliferation and migration, suggesting potential for therapeutic use.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
August 2025 in “PLoS ONE” This review explores treatment options for HS in the US and identifies how social disparities impact access to care, but it reports no new clinical findings.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
3 citations
,
January 2017 in “Yonsei Medical Journal” This study found that inhibiting 11β-HSD1 can partially reverse the negative impact of glucocorticoids on dermal papilla cells in human scalps, suggesting potential for treating stress-related hair loss.
October 2022 in “Dermatology practical & conceptual” This study found that bipolar disorder is more prevalent in patients with hidradenitis suppurativa than in those with psoriasis or in control groups.
January 2014 in “Astrocyte” This study found that among women with diffuse hair loss, 26.2% had a history of drug intake, with antihypertensives being the most common drug group implicated.
1 citations
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August 2015 in “PubMed” This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.
76 citations
,
March 2008 in “Journal of the American Academy of Dermatology” This study found that videodermoscopy can help diagnose nailbed psoriasis by revealing distinctive hyponychial capillary patterns, which correlated with disease severity and response to treatment.