2 citations
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July 2022 in “Cureus” Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
15 citations
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May 2021 in “British journal of dermatology/British journal of dermatology, Supplement” Cell therapy shows promise for treating severe psoriasis but needs more research to confirm safety and effectiveness.
8 citations
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
August 2022 in “F1000Research” Digital gangrene can be a rare first sign of late-onset systemic lupus erythematosus.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
23 citations
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March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
31 citations
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September 2012 in “Human Brain Mapping” People with Seasonal Affective Disorder have different brain activity in certain areas when resting.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
May 2024 in “International journal of medicine and psychology.” Age-related immune changes significantly affect disease development in other systems.
71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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January 1995 in “PubMed” Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
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February 2009 in “Clinical Rheumatology” SLE is more common among Nigerians than previously thought, especially in women, requiring early treatment.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
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January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
July 2023 in “International Journal of Rheumatic Diseases” Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
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January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
2 citations
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July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
July 2022 in “International Medical Case Reports Journal” The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.