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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
June 2016 in “Annals of the Rheumatic Diseases” Early symptoms of SLE include fatigue, joint pain, and sensitivity to sunlight.
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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.
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April 2024 in “Clinical Medicine” Timely diagnosis and aggressive treatment with high-dose steroids and B-cell depletion therapies are effective for severe acute cutaneous lupus.
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
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August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
May 1985 in “The Pediatric Infectious Disease Journal” Trimethoprim-sulfamethoxazole can cause aseptic meningitis.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
April 2016 in “Journal of The American Academy of Dermatology” People with lichen planopilaris often have seborrheic dermatitis, which can delay the diagnosis of lichen planopilaris.
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
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April 2018 in “Endocrine” PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
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July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
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January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
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November 2006 in “APLAR Journal of Rheumatology” The author found peace and acceptance living with lupus through support, understanding, and treatment.
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July 2021 in “Journal of Skin and Sexually Transmitted Diseases” Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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January 2019 in “Springer eBooks” Segmental Vitiligo is a stable, early-onset form of vitiligo that responds well to early treatment and is ideal for repigmentation studies.