2 citations
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July 2022 in “Dermatology Reports” This case study describes a 23-year-old woman with erosive pustular dermatosis of the scalp who later developed multiple sclerosis, suggesting a possible shared immunological etiology involving neutrophil hyperactivation.
January 2012 in “Journal of Investigative Dermatology” Small molecule DMF improves psoriasis and multiple sclerosis, adult skin cells can be made to grow new hair, certain skin cells initiate hair growth, IL-17C controls gut health and can cause skin inflammation, and skin cells produce IL-17 that can lead to psoriasis.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
9 citations
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February 2002 in “International Journal of Dermatology” This case study reports that a combination of PUVA therapy and oral methyl prednisolone initially improved symptoms of a woman's cutaneous T-cell lymphoma but required ongoing treatment due to recurrence.
April 2016 in “Journal of Investigative Dermatology” This study identified mefloquine as a potent inducer of lethal ER stress that effectively eliminated vemurafenib-resistant and sensitive melanoma cells, suggesting its potential for repurposing as a melanoma treatment.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
November 2022 in “CARDIOMETRY” This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study examines how conditions like PSSD, Long COVID, and ME/CFS form a "Post-Exposure Syndromes" family, initiated by transient exposures but persisting due to complex state-space dynamics, and suggests improving pharmacovigilance to better address and understand these persistent syndromes.
97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
October 2014 in “Aktuelle Dermatologie” This case report describes a 19-year-old with Mayer-Rokitansky-Küster-Hauser syndrome developing alopecia areata totalis, discussing potential connections and treatment options like methylprednisolone pulse therapy, but reports no new clinical results.
6 citations
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February 2015 in “Anais Brasileiros de Dermatologia” This study found that patients with mycosis fungoides have higher levels of cardiovascular risk markers, suggesting an increased cardiovascular risk in this group compared to healthy controls.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
2 citations
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June 2017 in “Journal of Evidence Based Medicine and Healthcare” This study found diverse clinical presentations in patients with newly detected connective tissue disease, highlighting the diagnostic and prognostic importance of cutaneous features.
6 citations
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March 1991 in “Journal of Radioanalytical and Nuclear Chemistry” Manganese levels in hair may be linked to multiple sclerosis.
49 citations
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November 2012 in “Journal of neurology, neurosurgery and psychiatry” This review discusses non-motor symptoms in patients with thymoma-associated myasthenia gravis, suggesting these symptoms, which can be treatable, often go overlooked despite affecting multiple organs.
22 citations
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March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
August 2019 in “Reactions Weekly” Daclizumab may cause psoriasis-like skin problems in multiple sclerosis patients.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
This case report details a 28-year-old male who developed trichotillomania following a traumatic brain injury, highlighting diagnostic challenges in distinguishing overlapping psychiatric and compulsive behaviors, and underscores the importance of a comprehensive, multidisciplinary treatment approach.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
10 citations
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November 1993 in “Indian Journal of Dermatology Venereology and Leprology” This report observed that a male developed erythema multiforme linked to both topical and oral minoxidil use for androgenetic alopecia, supported by eruption recurrence with reapplication.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
95 citations
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September 2019 in “Brain” In this study, two patients with refractory juvenile dermatomyositis improved clinically and in disease activity after receiving the JAK inhibitor tofacitinib, showing potential effects in managing the condition.
1 citations
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January 2018 in “Indian dermatology online journal” This case report presents a 14-year-old girl with both type I diabetes and monilethrix, detailing her symptoms and treatment with topical minoxidil, while exploring a possible genetic link between the conditions.
October 2023 in “Journal of the European Academy of Dermatology and Venereology” In this study, a Delphi survey among 441 European dermatology patients identified psychological impacts as the most significant issues affecting their lives, underscoring the need for psychological support in managing dermatological diseases.