January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
52 citations
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September 2021 in “Kidney International” COVID-19 vaccination may trigger lupus in some people.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
August 2009 in “Australian Prescriber” Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
July 2024 in “Clinical Case Reports” ANA-negative lupus nephritis can be diagnosed and treated effectively with a comprehensive approach.
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.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
July 2025 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is generally safe for alopecia areata patients over 72 months.
September 2025 in “Mansoura Journal of Chemistry” Blood and urine markers are important for diagnosing lupus in children.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
May 2023 in “Frontiers in Endocrinology” Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
7 citations
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July 2023 in “Immunotherapy” Ritlecitinib works well and is safe for treating alopecia areata.
March 2002 in “Clin-Alert” In 2002, various drugs caused serious side effects, including vitamin B12 deficiency, heart issues, blindness, hypersexuality, allergic reactions, blood clotting problems, pupil dilation, capillary leak syndrome, muscle breakdown, hepatitis, skin reactions, and lupus.
April 2013 in “The Journal of Urology” Higher CRP levels suggest chronic inflammation is linked to bladder-related urinary symptoms in men with enlarged prostates.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
23 citations
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January 2012 in “International Food Research Journal” Tofacitinib effectively treated a woman's severe symptoms from a rare autoimmune condition.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
35 citations
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July 1977 in “PubMed” SLE affects lungs and kidneys similarly due to immune complexes.