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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
Two new mite species were found in a monkey's hair follicles, leading to a new genus and family proposal.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
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November 2016 in “Clinical and experimental dermatology” PAS III can cause multiple autoimmune diseases with noticeable skin issues.
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April 2016 in “Journal of The American Academy of Dermatology” Ixekizumab helps improve life quality, physical ability, and work performance in patients with psoriatic arthritis who haven't used biologic drugs before.
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December 2021 in “European Respiratory Review” The document concludes that diagnosing and treating Interstitial Pneumonia with Autoimmune Features (IPAF) is challenging, needs a multidisciplinary approach, and further research for better diagnostic criteria and treatments. It also emphasizes regular checks for Connective Tissue Disease symptoms in all patients with Interstitial Lung Disease.
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June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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July 2018 in “Stem cell research” Hair samples can be used to create stem cells easily and non-invasively.
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
October 2024 in “Clinical Cosmetic and Investigational Dermatology” Brevilin-A is a safe and effective treatment for mild to moderate alopecia areata in children.
April 2023 in “Journal of Dermatological Treatment” Tofacitinib helped regrow hair in a teen with a unique pattern of alopecia areata.
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” Tattoos may trigger autoimmune symptoms in some people.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
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January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” A mother and daughter had severe skin, hair, and eye issues linked to IFAP.