January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
6 citations
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May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
November 2024 in “Benha Journal of Applied Sciences” Reduced alpha smooth muscle actin may cause hair loss in androgenetic alopecia.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
April 2019 in “Journal of the Endocrine Society” A woman with severe hypothyroidism had a rare skin condition usually linked to a different thyroid disease.
2 citations
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December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
November 2025 in “Biomedicines” Targeting pyroptosis may offer new treatments for alopecia areata, but more research is needed.
18 citations
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June 2010 in “Cell Stress and Chaperones” Heat treatment increases hair loss in certain mice.
19 citations
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January 2001 in “Internal Medicine” Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
May 2018 in “The Journal of Immunology” A(1-7) treatment reduces symptoms of lupus in mice.
1 citations
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September 2020 in “Endocrinology, Diabetes & Metabolism Case Reports” The conclusion is that thorough investigation of hypertension and hormonal dysfunctions is important, and there may be a link between these conditions and cancer.
February 2024 in “Journal of dermatology research reviews & reports” A 50-year-old woman with breast cancer developed an autoimmune skin disorder, highlighting the need for thorough checks and team-based treatment.
October 2023 in “Perinatology and reproductology from research to practice” Combining medication for dyslipidemia and insulin resistance with basic therapy improves outcomes for alopecia areata with metabolic syndrome.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
June 2025 in “British Journal of Dermatology” Denosumab may cause alopecia areata.
Removing silicone breast implants may improve symptoms of autoimmune/inflammatory syndrome.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
15 citations
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August 1991 in “American Journal of Medical Genetics” A special diet can fix hair problems in argininosuccinase deficiency.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
November 2024 in “Malaysian Journal of Microbiology” Patients with thyroid disorders show different symptoms and antibody levels.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
11 citations
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May 2019 in “Journal of Medical Primatology” Alopecia in rhesus macaques is linked to pregnancy, not stress.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.