July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
3 citations
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August 2019 in “International Journal of Dermatology” Dermoscopy is useful for diagnosing lichen planopilaris and certain features may relate to disease duration, age, and gender.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
1 citations
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July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
2 citations
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December 2019 in “Leprosy Review” A woman's hair loss and skin discoloration were found to be caused by a rare case of leprosy on the scalp, not alopecia-vitiligo overlap.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
April 2016 in “Journal of The American Academy of Dermatology” People with lichen planopilaris often have seborrheic dermatitis, which can delay the diagnosis of lichen planopilaris.
14 citations
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July 2004 in “Australasian Journal of Dermatology” Follicular mycosis fungoides can look like a B-cell lymphoma, making diagnosis difficult.
1 citations
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July 2021 in “Journal of Skin and Sexually Transmitted Diseases” Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
Defective nuclear transport may cause gene expression changes in Progeria.
1 citations
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May 2025 in “The Journal of Rheumatology” Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
August 2025 in “Journal of Investigative Dermatology” Elevated luteinizing hormone contributes to female-pattern hair loss, and blocking certain channels may help prevent it.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
1 citations
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March 2025 in “Journal of Investigative Dermatology” Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
April 2024 in “Skin research and technology” VLDL could be an early warning sign for male pattern baldness.
1 citations
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August 2019 in “Chinese Medical Journal” A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
1 citations
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July 2021 in “Curēus” A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
10 citations
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January 2024 in “Polymer Chemistry” Lipid–polymer hybrid nanoparticles can improve genome editing delivery and outcomes.
5 citations
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August 2025 in “Drug Delivery and Translational Research” Lipid-polymer hybrid nanoparticles show promise for skin treatments but need better formulation strategies.