March 2026 in “Preprints.org” This review suggests that the compound DRDE-07, originally a sulphur-mustard countermeasure candidate, could potentially be repurposed for skin protection due to its compatibility with pathways involved in oxidative stress and inflammation, though further experimental study is needed to confirm its therapeutic applicability in dermatology.
34 citations
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August 2002 in “British Journal of Dermatology” This study observed that two patients treated with interferon α-2b and ribavirin for chronic hepatitis C experienced complete and reversible straightening of their natural curly hair, which recurred with treatment resumption.
4 citations
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October 2012 in “Archives of Dermatology” Hair diameter diversity is a key sign for diagnosing and managing male pattern baldness.
40 citations
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March 2018 in “Aesthetic Surgery Journal” This study found that a single injection of platelet-rich stroma significantly increased hair density in men with androgenetic alopecia within 6 to 12 weeks, with no reported side effects.
14 citations
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September 1986 in “Archives of Dermatology” This study found that women with female pattern baldness had a marked increase in the 3α,17β-androstanediol glucuronide/sex hormone binding globulin ratio and low serum sex hormone binding globulin.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
November 2024 in “Journal of Investigative Dermatology”
55 citations
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February 1985 in “Archives of Dermatology” This study found that 32% of patients with hereditary male pattern baldness experienced cosmetically acceptable hair growth after applying topical minoxidil twice daily, with no serious side effects reported.
20 citations
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September 1987 in “The Lancet”
10 citations
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June 2011 in “Archives of Dermatology” Finasteride caused blisters on hands and feet.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
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.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
April 2019 in “Journal of Investigative Dermatology” This study found that post-hematopoietic cell transplantation epidermal grafting significantly reduced chronic wound size in patients with recessive dystrophic epidermolysis bullosa.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
April 2018 in “Journal of Investigative Dermatology” This study found that treating human dermal fibroblast cells with ginsenoside Rd increased the expression of mRNA associated with the dermal-epidermal junction, suggesting potential as an anti-aging cosmetic ingredient.
In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
10 citations
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September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
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.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.