88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
5 citations
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April 2013 in “Nasza Dermatologia Online” Oral zinc therapy is effective for treating acrodermatitis enteropathica.
5 citations
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August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
60 citations
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June 1997 in “Baillière's clinical obstetrics and gynaecology” PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
161 citations
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August 2012 in “Seminars in cell & developmental biology” Hair growth and development are controlled by specific signaling pathways.
122 citations
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January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
1 citations
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January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
August 2025 in “Skin Appendage Disorders” Topical minoxidil can help improve hair in trichonodosis.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
2 citations
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January 2019 The document concludes that autoimmune skin disorders are treated with corticosteroids and immunosuppressive drugs.
5 citations
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September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
28 citations
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April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
47 citations
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March 2017 in “Clinical, cosmetic and investigational dermatology” Certain skin conditions may indicate or increase the risk of Parkinson's disease.
January 2025 in “Dermatology Review” Artefactual skin disorder involves self-inflicted skin lesions linked to mental health issues, needing combined medical and psychological treatment.
Polarized microscopy helps identify hair irregularities in genetic disorders.
45 citations
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January 1999 in “Dermatology” The VQ-Dermato is a reliable French questionnaire for measuring quality of life in chronic skin disorder patients.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
12 citations
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July 2019 in “Acta Neurologica Belgica” Levodopa for Parkinson's disease might be linked to skin issues like melanoma, but it's unclear if the drug or the disease causes them.
3 citations
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February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” Certain genes are linked to skin aging, like wrinkles and pigmentation changes.
March 2026 in “Nature Communications” Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
Hormonal treatments can help with hair loss, acne, and excess hair growth, but it takes 3-6 months to see results and patients should know the possible side effects.
11 citations
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September 1997 in “Archives of Dermatology” Reduced androgens linked to kinky hair disorder and hair loss; 5a-reductase inhibitors may help.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.