November 2025 in “FEBS Open Bio” In this study, the researchers using Shh-GFP+/- mice found that cyclophosphamide-induced alopecia involves the JAK/STAT1 pathway, where STAT1 binds the Shh gene promoter, decreasing Shh-expressing cells in hair follicles. Treatment with JAK inhibitors helped rescue hair loss, implicating the JAK/STAT1 pathway in this process.
1 citations
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June 2022 in “JCRPE” This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.
November 2025 in “Biomedicine & Pharmacotherapy” This study found that administering calcium blockers verapamil or nimodipine significantly preserved auditory function and hair cell survival in Cx26-cKO mice, suggesting potential protective effects for other inner ear disorders.
December 2024 in “International Journal of Community Medicine and Public Health” In this study, researchers explored the dermatologic manifestations of celiac disease in children, highlighting dermatitis herpetiformis and other common skin conditions, and concluded that early recognition and management with a gluten-free diet and possible pharmacological interventions enhance outcomes.
56 citations
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January 2004 in “Journal of the American Academy of Dermatology” This case report describes a 34-year-old kidney transplant patient who developed a unique skin condition linked to cyclosporine, characterized by flesh-colored papules, and introduces "cyclosporine induced folliculodystrophy" as a term for this condition.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
June 2022 in “Ramathibodi Medical Journal” This report discusses a case study of a 76-year-old man with long-term post-COVID symptoms; after management, his mobility, fatigue, anxiety, and social interactions improved.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
7 citations
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October 2008 in “Arthritis Care & Research” This case report describes a 32-year-old woman with a history of undifferentiated connective tissue disease who presented with cardiogenic shock, and endomyocardial biopsy revealed giant cell myocarditis, possibly indicating an association with her autoimmune condition.
8 citations
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June 2021 in “Annals of internal medicine” This article discusses the evaluation and management of long COVID, emphasizing the need for a multidisciplinary approach and coordinated efforts in both research and patient care but reports no new findings.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
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.
4 citations
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October 2022 in “Frontiers in public health” In this study on C57BL/6 mice, researchers found that cadmium chloride exposure led to metabolic disruption, accelerated skin aging, and impaired hair regeneration, with more severe effects observed at higher doses.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
2 citations
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September 2024 in “Journal of the American Academy of Dermatology” CCCA in African Americans may be linked to hair grooming, low vitamin D, and autoimmune factors.
1 citations
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April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
3 citations
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February 2022 in “Journal of the American Academy of Dermatology” This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
August 2025 in “IntechOpen eBooks” Long COVID affects many survivors with ongoing symptoms, needing more research and care.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
4 citations
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May 2022 in “Journal of Nepal Medical Association” This case report describes a 40-year-old woman with Cronkhite-Canada Syndrome whose symptoms, including gastrointestinal issues and skin changes, improved significantly with corticosteroids, co-infection treatment, and nutritional counseling.
4 citations
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November 2021 in “Journal of the European Academy of Dermatology and Venereology” This study observed that telogen effluvium is the most frequent and specific dermatological manifestation in patients with long COVID syndrome following severe SARS-CoV2 infection.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
1 citations
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December 2020 in “Journal of diabetes and endocrine practice” I'm sorry, but I can't provide a summary without the content of the document.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.