6 citations
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April 2013 in “British Journal of Dermatology” This article reviews various histological features of hidradenitis suppurativa and proposes discrepancies with previous nomenclature, reporting no new clinical findings; the authors highlight the need for revised understanding.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study created a comprehensive single-cell atlas of hidradenitis suppurativa tunnels, identifying distinct microenvironmental endotypes linked to specific signaling pathways, suggesting that TNF blockade may not effectively address predominant pathways in many lesions and highlighting the potential for individualized treatment strategies.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
30 citations
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June 2015 in “Dermatologic Surgery” This abstract does not provide any new research findings or results.
June 2022 in “Dermatologic Therapy” This case report describes a 14-year-old girl with congenital hypotrichosis who experienced improved hair density and thickness after 3 months of treatment with oral minoxidil.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
This study suggests that individuals with severe sickle cell disease, indicated by higher hemoglobin S and ferritin levels, may have lower cortisol levels as shown by reduced hair cortisol content.
8 citations
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June 2016 in “PubMed” This review discusses the use of finasteride for treating hidradenitis suppurativa and reports favorable outcomes in several cases, suggesting it could be an effective and safe option for certain patients.
6 citations
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December 2021 in “Scientific Reports” This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
13 citations
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June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
32 citations
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June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
11 citations
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November 2015 in “Journal of Functional Foods” This study found that the ethyl acetate fraction of Hibiscus rosa sinensis petals significantly reduced serum glucose and glycated hemoglobin levels in diabetic rats, with effects comparable to metformin.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
4 citations
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August 2019 in “Actas Dermo-Sifiliográficas” This study evaluated the Spanish version of the Hair Specific Skindex-29 questionnaire and found it sensitive to changes in health-related quality of life among women with female-pattern hair loss.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
28 citations
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October 2013 in “Journal of The American Academy of Dermatology” In this study, ovarian SAHA was found to be independently associated with a more insulin-resistant profile and increased risk of glucose abnormalities in women with PCOS, beyond common risk factors.
35 citations
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April 2009 in “Journal of Neuroscience Research” In this study, HDAC inhibitors promoted the differentiation of rat C6 glioma cells through the production of 5α‐reduced neurosteroids, enhancing serotonin-stimulated BDNF gene expression.
51 citations
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March 2019 in “Experimental Dermatology” This study suggests that in hidradenitis suppurativa, MMP-induced matrix alterations may contribute to inflammation by releasing active peptides and inflammatory factors in the extracellular matrix.