June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
January 2010 in “Life Science Alliance” This study found that in Vdr-knockout mice, hair follicles fail to complete the catagen stage, leading to persistent epithelial strands and subsequent hair loss.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
81 citations
,
January 2006 in “Journal of cellular physiology” This study found that the absence of the vitamin D receptor disrupts hair follicle structure during the first catagen in mice, linked to increased expression of the hairless gene.
7 citations
,
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.
12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
26 citations
,
April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
1 citations
,
April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
47 citations
,
September 1995 in “British Journal of Dermatology” This review discusses the complication of vitiligo in patients undergoing diphencyprone sensitization therapy for alopecia universalis and reports no new clinical findings.
In this case report, a 25-year-old woman with VKHD experienced an unusual occurrence of vellus-like hair growth on her normally hairless palm, observed twice over two years, expanding the known integumentary manifestations of VKHD.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that varicella-zoster virus infection in skin cells may play a role in segmental vitiligo's progression and depigmentation.
10 citations
,
January 2012 in “Case reports in medicine” This report describes two cases where patients developed vitiligo as a side effect of diphencyprone treatment for alopecia areata, highlighting the need to inform patients about this potential adverse effect.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
25 citations
,
December 1995 in “Neurology” This study observed that in varicella, the varicella-zoster virus spreads to dermal endothelial cells before reaching keratinocytes, whereas in herpes zoster, it first involves cutaneous nerves and pilosebaceous units.
15 citations
,
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.
April 2017 in “Australasian Journal of Dermatology” Different skin conditions show distinct types of vessel inflammation, a new quality of life index for vulval disease is reliable, a certain intrauterine system might be linked to chronic vaginal yeast infections, and oral minoxidil reduces hair loss in women.
2 citations
,
January 2025 in “Brazilian Journal of Medical and Biological Research” This study demonstrated that VD3 significantly enhanced the proliferation and differentiation of epidermal stem cells in a murine skin defect model, leading to improved wound healing, potentially through activation of the PI3K signaling pathway.
107 citations
,
March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
104 citations
,
May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
March 2026 in “Virulence” This narrative review suggests that intermediate filaments like vimentin and keratin play a significant role in various stages of viral infection, presenting potential antiviral intervention targets.
January 2026 in “Contemporary Clinical Dentistry” This case report describes a rare instance of Vogt-Koyanagi-Harada disease in a 21-year-old Asian woman, highlighting unusual oral manifestations such as tooth discoloration and misalignment, which expand the known clinical spectrum of the disorder.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
8 citations
,
November 2024 in “Acta Dermato Venereologica” This review summarizes existing validation research on the Dermatology Life Quality Index (DLQI), highlighting its reliability and responsiveness while identifying the need for further validation regarding racial and ethnic inclusivity.
41 citations
,
December 2008 in “Journal of the American Academy of Dermatology” This review discusses fixed drug eruption (FDE) potentially linked to finasteride and emphasizes dermatologists' need to recognize its possible occurrence due to the drug's widespread use, but reports no new clinical results.
56 citations
,
September 2014 in “Molecular Endocrinology” This study found that the absence of unliganded vitamin D receptor significantly impairs cWnt and hedgehog signaling pathways necessary for hair cycle initiation in VDR-null mice.