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November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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April 2013 in “Experimental and Therapeutic Medicine” Anti-SSB antibodies are useful for diagnosing systemic lupus erythematosus and are linked to specific symptoms.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
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April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
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January 2014 in “Annals of Dermatology” Modified superoxide dismutase may trigger an autoimmune response in alopecia areata.
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
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July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
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February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
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December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.
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June 2016 in “Annals of the rheumatic diseases” Retinoids may help treat lupus nephritis and reduce steroid use.
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December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
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July 2018 in “CMAJ. Canadian Medical Association journal” A three-year-old girl has hair loss despite treatment with selenium sulfide shampoo and anti-fungal medication.
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
Anifrolumab improves quality of life and reduces steroid use in lupus patients.