5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
August 2025 in “Annals of the Rheumatic Diseases” SLE is likely one disease with various symptoms, not multiple distinct diseases.
August 2021 in “BMJ Case Reports” A woman with lupus had blood cell destruction, treated successfully with medication.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
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.
3 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
March 2019 in “Journal of medical science and clinical research” Skin problems are common and early signs of Systemic Lupus Erythematosus, and certain immune system markers are important for diagnosis and treatment.
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.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
23 citations
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July 2015 in “Encyclopedia of Life Sciences” Systemic lupus erythematosus is a chronic disease causing inflammation and various symptoms, mainly in young women, treated with anti-inflammatory and immunosuppressive drugs.
4 citations
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January 2015 in “Case Reports in Rheumatology” Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
PNH can occur in patients with SLE, so doctors should be aware of this.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
January 2025 in “Indian Dermatology Online Journal” Hydroxychloroquine may cause nail discoloration in lupus patients.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
August 2022 in “F1000Research” Digital gangrene can be a rare first sign of late-onset systemic lupus erythematosus.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
October 2010 in “EUR Research Repository (Erasmus University Rotterdam)” A fungal skin infection was successfully treated with medication and compression therapy.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
25 citations
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January 2019 in “Annals of Dermatology” Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
May 2025 in “Journal of Diverse Medical Research Medicosphere” More research is needed to understand and manage angioedema in pregnant women with lupus.
January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
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.
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.