31 citations
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October 2010 in “Journal of the European Academy of Dermatology and Venereology” The authors concluded that some patients clinically diagnosed with telogen effluvium may actually have alopecia areata incognita, suggested by the presence of dystrophic hairs and development of alopecia patches.
18 citations
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August 2008 in “Journal of Investigative Dermatology” 17-β estradiol and prednisolone may speed up hair regrowth after chemotherapy.
June 2008 in “Experimental Dermatology” This study suggests that combining 17-beta estradiol with prednisolone could accelerate hair regrowth after chemotherapy-induced alopecia in humans, based on preclinical findings using an in vitro model.
25 citations
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May 2013 in “Experimental Dermatology” This study found that topical EGF-liposomal solution may protect hair follicles from chemotherapy-induced damage by inducing a catagen-like stage in a mouse model.
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.
1 citations
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January 2014 in “Hair therapy & transplantation” This case study reports the first extensively interpreted instance of dystrophic telogen effluvium potentially linked to pegylated interferon and ribavirin therapy for chronic hepatitis C, characterized through clinical and trichogram analysis.
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.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
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.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
69 citations
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May 1997 in “Veterinary Pathology” This study found that the angora mouse mutation prolongs the anagen phase, resulting in excessively long hair and follicular abnormalities, without involving circulating hair cycle factors.
56 citations
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September 2010 in “Veterinary pathology” This study found that certain C57BL/6 mouse substrains have a genetic vulnerability to skin lesions resembling central centrifugal cicatrical alopecia in humans, potentially worsened by high vitamin A levels.
41 citations
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July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
41 citations
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December 2015 in “JAMA Dermatology” Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
18 citations
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November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
18 citations
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February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
13 citations
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February 2017 in “Clinical rheumatology” This report suggests that tofacitinib may be beneficial for patients with nail disease unresponsive to other treatments.
8 citations
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March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
8 citations
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study describes three female cases of androgen-dependent diseases in myotonic dystrophy, suggesting that peripheral androgen response, rather than serum levels, may drive such conditions.
7 citations
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September 2011 in “International Journal of Dermatology” This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.
6 citations
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March 2005 in “Journal of the American Academy of Dermatology” Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
4 citations
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February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
3 citations
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February 2001 in “British journal of ophthalmology” This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.
1 citations
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August 2023 in “Journal of cosmetic dermatology (Print)” This review discusses the potential link between selenium supplementation and symptoms of chronic selenium toxicity, such as hair loss and nail dystrophy, due to excess intake leading to disruptions in hair and nail protein structure.