September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
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.
12 citations
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March 2004 in “Journal of Investigative Dermatology”
1 citations
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September 2017 in “Journal of Investigative Dermatology” The researchers reported that inhibiting 11β-HSD1 activity in human dermal papilla cells may reduce the negative effects of glucocorticoids on hair growth, suggesting potential treatment for stress-related hair loss.
September 2017 in “Journal of Investigative Dermatology” This study found that hyaluronic acid increased the size and cell proliferation of mixed aggregates in a 3D culture model, indicating its role in human hair follicle germ-like structure formation without enhancing dermal papilla cell markers.
14 citations
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May 2019 in “Chemosphere” This study found that while DP concentrations in dust were higher in male dormitories, DP in hair was higher in females, suggesting differing metabolism between genders and that hair DP mainly originates internally.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
September 2021 in “Fertility and sterility” In this study, daily administration of 100mg DHEA for 16 weeks in women with adequate ovarian reserve did not modify metabolic or reproductive variables, apart from increased antral follicular count and anti-Müllerian hormone levels.
July 2022 in “Journal of Investigative Dermatology” This study found that the cosmetic olfactory receptor agonist cyclohexyl salicylate may stimulate hair growth and expand stem cell progeny, suggesting potential as a cosmetic adjuvant for hair loss.
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.
3 citations
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January 1993 in “Toxicological Sciences” This study found that 2-ethylhexanoic acid impaired fertility in Wistar rats and delayed postnatal development of pups, suggesting potential reproductive toxicity at certain dosages.
12 citations
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May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
41 citations
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November 2019 in “Journal of Ultrasound in Medicine” This study found that 70-MHz ultrasound can detect early signs of hidradenitis suppurativa linked to severity, including hair follicle abnormalities and keratin fragmentation, aiding in diagnosis and management.
29 citations
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April 2020 in “Biomolecules” The study suggests that a 3D culture system using the RAD16-I peptide scaffold can help restore the original phenotype of hair follicle dermal papilla cells and support their osteogenic and adipogenic differentiation.
1 citations
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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.
119 citations
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August 2010 in “Journal of Investigative Dermatology” This study reports that 11β-HSD1 activity in human skin increases with age and photoexposure, potentially contributing to skin aging and the effects of glucocorticoids.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
45 citations
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March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
1 citations
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March 2019 in “Journal of AOAC INTERNATIONAL” New method quickly and accurately measures dexpanthenol in hair products.
18 citations
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August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
179 citations
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May 1982 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that plasma 3 alpha-diol glucuronide was markedly elevated in women with idiopathic hirsutism, suggesting it may be a marker of peripheral androgen action.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
12 citations
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January 1987 in “Carcinogenesis” This study found that a single application of TCDD on the skin of hairless mice altered epidermal differentiation, changing keratin expression patterns similarly to a known tumor promoter.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
July 2022 in “Journal of Investigative Dermatology” This study developed a method to quantify hormones in skin secretions and found that hormonal composition varies by sex and anatomical site.
2 citations
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January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.