13 citations
,
April 2024 in “JAAD Case Reports” This review discusses current treatments for discoid lupus erythematosus and highlights anifrolumab as a promising option for difficult cases, but no new clinical results are reported.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
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.
4 citations
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February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” In this study, only Vdr-knockout rats showed both abnormal skin formation and alopecia, which may provide insights into vitamin D receptor function and its role in the hair growth cycle.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.
In this case study, donor lymphocyte infusions effectively eradicated measurable residual disease in a patient with relapsed acute myeloid leukemia after hematopoietic cell transplantation, while side effects included the development of vitiligo and alopecia areata, likely due to chronic graft-versus-host disease.
28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
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.
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.
1 citations
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April 2013 in “Journal of Investigative Dermatology” 67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
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.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.
16 citations
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February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
10 citations
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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.
8 citations
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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.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
October 2023 in “Scientific Reports” In this study, gene therapy using a VDR-expressing adenoviral vector promoted hair growth in Vdr-KO rats, suggesting its potential for treating alopecia associated with type II rickets.
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
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
3 citations
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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.
47 citations
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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.
2 citations
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March 2015 in “Hepatitis Monthly” This case report identified dystrophic anagen effluvium as a previously unreported dermatological side effect of PEG-INF-α-2a/RBV combination therapy in a patient with chronic hepatitis C infection.