February 2026 in “Cureus” Testosterone therapy had limited benefits for a man with depression and suspected low testosterone, highlighting the need for careful diagnosis and treatment planning.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
19 citations
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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.
23 citations
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April 2021 in “International Journal of Dermatology” COVID-19 may trigger systemic lupus erythematosus, requiring careful diagnosis and treatment.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
2 citations
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March 2023 in “Zenodo (CERN European Organization for Nuclear Research)” COVID-19 may trigger systemic lupus erythematosus in some people.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
12 citations
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February 2012 in “New England journal of medicine/The New England journal of medicine” A 72-year-old man had severe fatigue, weight loss, and frequent loose stools.
10 citations
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November 2016 in “Clinical and experimental dermatology” PAS III can cause multiple autoimmune diseases with noticeable skin issues.
33 citations
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August 2013 in “Lupus” SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
July 2023 in “Annals of African Medicine” Proper periodontal treatment with xenograft effectively manages aggressive periodontitis in SLE patients.
1 citations
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April 2019 in “JAAD case reports” A woman with lymphoma had a rare skin rash on her scalp and forehead, which was hard to diagnose but responded well to treatment.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
January 2026 in “Case Reports in Dermatological Medicine” Intralesional steroids effectively treated a young female's scalp nodules without recurrence.
29 citations
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June 2018 in “Scientific Reports” 15-lipoxygenase helps keep skin healthy by reducing inflammation.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
June 2023 in “British Journal of Dermatology” Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
1 citations
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April 2016 in “Journal of The American Academy of Dermatology” A man developed a rare skin condition and drug-induced lupus, highlighting the need for biopsy in diagnosing skin issues caused by sunlight.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
23 citations
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November 2013 in “Lupus” Therapeutic intervention improved the quality of life for Japanese lupus patients with skin issues.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
November 2016 in “Journal of The American Academy of Dermatology” Control symptoms and use safe treatments for skin conditions like lichen planopilaris and chronic cutaneous lupus erythematosus.
73 citations
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April 2010 in “Anais Brasileiros de Dermatologia” Dermoscopy helps diagnose and monitor treatment for hair loss from scarring conditions like discoid lupus and lichen planopilaris.
December 2025 in “Annals of African Medicine” 9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.