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.
17 citations
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July 2019 in “Lupus Science & Medicine” In this study, gene expression analysis of plucked hair follicles from scalp lesions was sufficient to differentiate chronic discoid lupus erythematosus from psoriasis and healthy controls, suggesting a non-invasive diagnostic potential.
8 citations
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April 2023 in “Dermatology Practical & Conceptual” This study reported that higher monocyte lymphocyte ratio, monocyte high-density lipoprotein cholesterol ratio, and platelet lymphocyte ratio were associated with increased risk of developing alopecia areata, suggesting their potential as diagnostic markers.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
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.
February 2018 in “Egyptian Journal of Radiation Sciences and Applications” This study observed that Egyptian patients with discoid lupus erythematosus have significantly lower serum vitamin D3 and antioxidant levels compared to healthy controls, suggesting potential benefits of vitamin D3 and antioxidant supplementation.
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.
February 2025 in “Iraqi Journal of Science” This study found that women with polycystic ovary syndrome had significantly higher serum lactate dehydrogenase levels and lower levels of cortisol, dopamine, zinc, and vitamin D3 compared to healthy controls.
11 citations
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May 2011 in “The Journal of Dermatology” This case report describes a possible association between Vogt-Koyanagi-Harada disease and linear IgA/IgG bullous dermatosis in a 35-year-old Japanese male, though coincidence cannot be ruled out.
October 2023 in “Journal of the Endocrine Society” This case report describes a unique instance where elevated prolactin levels from a pituitary adenoma were associated with hirsutism due to increased dihydrotestosterone, with treatment leading to normalization.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
October 2023 in “Dermatology practical & conceptual” In this study, AMD was observed more frequently in AGA patients, and a higher monocyte/HDL ratio was associated with increased AMD severity, especially in men.
May 2022 in “Benha Journal of Applied Sciences” This study found that programmed death-ligand 1 (PD-L1) levels correlated with the severity of alopecia areata, suggesting its potential as an indicator and possible target for new treatments.
January 2026 in “Skin Research and Technology” The study's findings on VLDL as a biomarker for hair loss are unreliable.
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.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
March 2021 in “Indian Journal of Case Reports” This case report describes a young adult female with late-stage Vogt-Koyanagi-Harada disease featuring panuveitis, retinal detachment, hearing loss, alopecia, and vitiligo, who was successfully treated in a hospital.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
20 citations
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June 2020 in “Journal of Cosmetic Dermatology” This study found that hypoxia increases the proliferation of dermal papilla cells and highlighted the important role of lactate dehydrogenase in this process.
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.
10 citations
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February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
January 2024 in “Theranostics” This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.
April 2016 in “Journal of The American Academy of Dermatology” Lichen planus may be associated with a higher risk of metabolic syndrome.