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.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
April 2020 in “Journal of the Endocrine Society” This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.
72 citations
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February 1990 in “British Journal of Clinical Pharmacology” This study found that concentrations of haloperidol and its metabolite in human scalp hair significantly correlated with the daily dose and plasma trough levels in patients taking haloperidol.
The ProScope HR is an effective, user-friendly, and affordable tool for diagnosing hair loss.
27 citations
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May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
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.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
March 2020 in “Hair transplant forum international” This article reports on a Consent Agreement by the New York State Board charging Dr. Dennis Daly with professional misconduct related to unqualified and unlicensed practice.
July 2008 in “Hair transplant forum international” This piece marks the tenth anniversary of the American Board of Hair Restoration Surgery and highlights the addition of 14 new diplomates from diverse countries, while reporting no new clinical findings.
9 citations
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March 2014 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This study developed a novel multi-scale image descriptor using dictionaries for classifying histological images, achieving average recall and precision measures of 0.81 and 0.86 in identifying specific skin structures and pathologies.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
September 2009 in “Annales D Endocrinologie” This article reviews the clinical signs, diagnostic approaches, and treatment options for hyperandrogenism in women, focusing on hirsutism and specifies that cyproterone acetate is effective for severe cases, but reports no new clinical results.
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.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study observed that treating hair follicles with BM15766 and 7DHC led to structural damage, disrupted cellular organization, reduced expression of key genes and proteins, and increased apoptosis, in contrast to controls, indicating detrimental effects on hair follicle integrity.
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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April 2013 in “Journal of Investigative Dermatology”
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
July 2024 in “International Journal of Molecular Sciences” This study explored the effects of DPP, a 15-PGDH inhibitor, on human follicle dermal papilla cells damaged by dihydrotestosterone and observed that DPP enhanced wound healing, reduced reactive oxygen species, and increased hair growth in ex vivo human hair follicle cultures.
130 citations
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August 2015 in “Experimental Dermatology” This review provides a comprehensive guide to serum-free human hair follicle organ culture methods, highlighting research opportunities, standardization efforts, and potential applications without reporting new empirical findings.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
215 citations
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September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study generated a transcriptomic map of human hair follicles, identifying compartment-specific gene expression profiles that can aid in developing targeted therapies for hair follicle disorders.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
1 citations
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August 2023 in “Nature communications” In this study, researchers found that Hdac1 and Hdac2 are crucial for maintaining the quiescence and survival of dermal papilla cells in the hair follicle, regulating the hair cycle by controlling cell-cycle genes and Wnt signaling.