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July 2003 in “Annals of the Rheumatic Diseases” A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
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Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
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March 2026 in “American Journal of Clinical Dermatology” Ritlecitinib effectively regrows hair in severe alopecia areata, especially in adolescents.
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
Lichen spinulosus, usually seen in young people, can rarely occur in adults, as shown by a 52-year-old woman with a rough, bumpy rash.
Ritlecitinib is a new treatment for severe hair loss in people 12 and older.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
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December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
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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.
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July 2003 in “Annals of the Rheumatic Diseases” An antibiotic called co-trimoxazole can effectively treat autoimmune diseases.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
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November 2023 in “Clinical Pharmacokinetics” Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
October 2024 in “Clinical Chemistry” The girl's motor issues were due to scurvy from a lack of vitamin C, which improved with supplements.
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.