January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
24 citations
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January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
10 citations
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March 2016 in “The Journal of Obstetrics and Gynecology of India” This review proposes renaming polycystic ovarian syndrome to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" to better reflect its diagnostic criteria and promote consistency in research, but reports no new clinical findings.
43 citations
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July 2017 in “International journal of pharmaceutics” This study found that anionic HSES achieved high complexation efficiencies with various steroids, significantly enhancing their solubility, while specific β-cyclodextrin thioethers showed selective binding to testosterone and estradiol.
February 2007 in “Journal of Clinical Dermatology”
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
9 citations
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July 2017 in “Case Reports in Dermatology” This case study describes a 19-year-old female with hidradenitis suppurativa whose symptoms and metabolic abnormalities improved significantly over 3 years on a combined regimen, though some skin lesions persisted.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
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.
5 citations
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February 2016 in “Sultan Qaboos University medical journal” This case report describes a patient with a severe pruritic rash and hair loss in both axillary regions, with no fluorescence under a Wood's lamp and hair follicle-centred papules observed through dermoscopy.
April 2015 in “Cambridge University Press eBooks” Many women experience sexual dysfunction, but few seek help, and better treatment and medical training are needed.
18 citations
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February 2022 in “Cell Death Discovery” In this study, researchers found that hair follicle-derived mesenchymal stem cells, modified to overexpress extracellular matrix protein 1, significantly improved liver function and reduced liver damage in cirrhotic mice by inhibiting hepatic stellate cell activation and TGF-β/Smad signaling.
8 citations
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November 2018 in “Australasian Journal of Dermatology” This study adds evidence suggesting a genetic component to frontal fibrosing alopecia, with daughters experiencing an earlier onset than their mothers, although the clinical pattern remains similar to non-familial cases.
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.
March 2024 in “Poster presentations” This case report describes a 43-year-old woman diagnosed with both Kikuchi-Fujimoto disease and systemic lupus erythematosus, who showed clinical improvement after treatment with glucocorticoids and hydroxychloroquine, highlighting the rare coexistence of these conditions and the ongoing uncertainty about the precise cause of Kikuchi-Fujimoto disease.
24 citations
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September 2015 in “JAAD case reports” This case report describes a patient with frontal fibrosing alopecia experiencing significant hair regrowth and reversal of cutaneous atrophy after treatment with the 5α-reductase inhibitor finasteride.
8 citations
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October 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that HFV70 cryogels, made from Flammulina velutipes extract and hydroxyethyl cellulose, effectively promoted rapid hemostasis and tissue regeneration in full-thickness skin defects in rats, demonstrating improved hemocompatibility, cytocompatibility, antimicrobial, and antioxidant properties.
August 2019 in “Journal of the American Academy of Dermatology” Frontal fibrosing alopecia may be caused by an autoimmune reaction and hormonal imbalance.
1 citations
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January 2022 in “Oxidative Medicine and Cellular Longevity” This study found that hair follicle-derived mesenchymal stem cells can alleviate pyroptosis and improve ulcerative colitis symptoms in mice, suggesting potential new treatments for the condition.
19 citations
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April 2013 in “Drug Development and Industrial Pharmacy” This study highlights the significance of the hf pathway for the skin permeation of ionized and hydrophilic high molecular compounds, and the usefulness of hf-plugging in evaluating their skin permeability.
5 citations
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April 2021 in “Journal of Academic Research in Medicine” In this study, the free androgen index (FAI) was found to be a reliable marker for diagnosing and monitoring adolescent girls with hyperandrogenism, suggesting clinical reference values for PCOS, obesity, and idiopathic hirsutism.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
2 citations
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August 2022 in “Middle East Fertility Society Journal” This study found that combining fructose and DHT in rats successfully mimicked the clinical phenotypes of non-lean PCOS, providing a novel rodent model for this condition.
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.
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.
April 2023 in “Journal of Investigative Dermatology” 3D ultrasound can detect hair follicle changes and disease phases in alopecia areata.
33 citations
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April 2020 in “Journal of Clinical Investigation” This study found that hair follicle stem cells from hidradenitis suppurativa patients showed alterations in cell cycle regulation and DNA replication, potentially linking genetic predisposition to the skin inflammation characteristic of the disease.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.