November 2017 in “Journal of Surgical Academia” Visual field defects in lupus nephritis can be caused by hypertensive retinopathy, not glaucoma or medication toxicity.
1 citations
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January 2024 in “BMJ Case Reports” A woman had meningitis caused by mixed connective tissue disease, not an infection.
6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
August 2009 in “Australian Prescriber” Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
4 citations
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January 2017 in “Biological & pharmaceutical bulletin” Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
November 2024 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib provides new treatment options for diverse alopecia areata patients.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
5 citations
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February 1977 in “Archives of Dermatology” The study suggests that complement activation, not immunoglobulins, may be important in erythema nodosum leprosum.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
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.
4 citations
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March 2025 in “The Journal of Dermatology” Ritlecitinib is effective and safe for hair regrowth in Asian patients with alopecia areata.
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.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
September 2025 in “Mansoura Journal of Chemistry” Blood and urine markers are important for diagnosing lupus in children.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
1 citations
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November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
4 citations
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April 2016 in “Journal of The American Academy of Dermatology” A patient with advanced kidney cancer and no hepatitis C developed skin inflammation due to a drug called interferon alpha-2a.
October 2025 in “Archives of Clinical Toxicology” Cetirizine is effective and safe for treating various allergies, with personalized dosing improving its use.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
August 2021 in “BMJ Case Reports” A woman with lupus had blood cell destruction, treated successfully with medication.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
13 citations
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October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
April 2018 in “African journal of rheumatology” A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
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.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
7 citations
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June 2010 in “Journal of The American Academy of Dermatology” Tranilast successfully treated a man's skin sarcoidosis when other treatments failed.