July 2021 in “British Journal of Dermatology” Laser treatment for skin conditions VEN and ILVEN is effective and liked by patients.
13 citations
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July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
50 citations
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October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
January 1994 in “Nippon Ronen Igakkai Zasshi Japanese Journal of Geriatrics” In this study, both VEPA and ML-Y1 treatment regimens for older patients with non-Hodgkin's lymphoma showed similar response and survival rates, but neither was sufficient, indicating the need for a more effective approach.
3 citations
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January 2025 in “SAGE Open Medical Case Reports” In this case report, a 48-year-old woman with refractory discoid lupus erythematosus showed significant improvement, including hair regrowth, after treatment with deucravacitinib, suggesting its potential as an effective therapy for this condition.
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.
3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
14 citations
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January 2006 in “Skinmed” A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that specific inhibition of the classical complement pathway with BIVV009 prevented C3 deposition along the dermal-epidermal junction in bullous pemphigoid, reflecting its potential efficacy.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
10 citations
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June 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the vitamin D receptor plays a crucial role in promoting differentiation and protecting against UVB-induced DNA damage in murine melanocytes, suggesting potential implications for melanoma progression.
22 citations
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March 1999 in “International Journal of Clinical Practice” This review discusses the use of topical immunotherapy for severe alopecia areata and resistant viral warts, highlighting diphencyprone's advantages and the need for careful handling to avoid staff sensitisation; it reports no new clinical results.
25 citations
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March 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that while VDR is crucial for maintaining hair follicles in mice, their degeneration may be linked to impaired cell migration during hair growth phases rather than stem cell loss.
This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
In this study, researchers developed an AI-powered platform called VitaDetect, which screens for vitamin deficiencies using image analysis of nails, tongue, and skin, aiming to provide an accessible and early-stage detection tool in resource-limited settings.
56 citations
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November 2012 in “Endocrinology” This study found that the absence of vitamin D receptor signaling in mice impairs the inflammatory response to skin injury, particularly affecting macrophage recruitment and granulation tissue formation.
1 citations
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January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
This study found changes in the PGI2 pathway, especially in gene and protein expression, in diabetic mice, but did not observe PGI2-dependent vasomotor dysfunction.
1 citations
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January 2023 in “Burns and trauma” This study found that tdDPC-EVs significantly improved wound healing by enhancing angiogenesis through the KLF4/VEGFA axis, offering advantages over traditional DPC-EVs.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
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.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
November 2023 in “Biomolecules” In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.