19 citations
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September 2019 in “EMBO molecular medicine” Blocking TSLP reduces skin inflammation and cell overgrowth in psoriasis.
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
49 citations
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November 1984 in “JAMA” Trimethoprim-sulfamethoxazole can cause aseptic meningitis, especially in people with certain health conditions.
32 citations
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
May 1985 in “The Pediatric Infectious Disease Journal” Trimethoprim-sulfamethoxazole can cause aseptic meningitis.
December 2010 in “Elsevier eBooks” Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
6 citations
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September 2020 in “Frontiers in Neurology” Managing myasthenia gravis is crucial and does not worsen primary Sjögren's syndrome.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
18 citations
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August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
1 citations
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October 2019 in “European Journal of Dermatology” Salicylic acid ointment effectively treated a toddler's skin condition.
16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
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.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
4 citations
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August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC.
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March 2018 in “Pediatric Dermatology” Children with short anagen syndrome usually see their hair condition improve as they get older.
September 2023 in “Journal of the American Academy of Dermatology” Including special area involvement helps identify more psoriasis patients who may need systemic treatment.