October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
5 citations
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June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
October 2024 in “Journal of the Endocrine Society” Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
January 2024 in “Hypertension research” More research is needed to understand sex and racial differences in long COVID.
October 2025 in “International Journal of Dermatology” JAK inhibitors may help treat certain types of hair loss, but more research is needed.
2 citations
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January 2001 in “Humana Press eBooks” Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
9 citations
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March 2018 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Recognizing Jacquet's sign helps diagnose and treat traction alopecia accurately.
867 citations
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November 2020 in “Nature Communications” Collider bias can distort our understanding of COVID-19 risk and severity.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Gap junctions help control feather pattern formation by enabling cell communication.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
3 citations
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
November 2015 in “Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca Veterinary Medicine” Most dogs with Cushing's syndrome have pituitary tumors causing varied symptoms, complicating diagnosis.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
January 2013 in “Frontiers in Immunology” Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
October 2024 in “The American Journal of Gastroenterology” Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
1 citations
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April 2015 in “International Journal of Pediatrics and Adolescent Medicine” Cyclosporine-A can cause excessive hair growth, which usually stops after discontinuing the drug.
September 2008 in “Hair transplant forum international”
489 citations
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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
9 citations
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June 2013 in “Australasian Journal of Dermatology” Infliximab improved skin and bowel symptoms in Crohn's disease but caused side effects and the disease returned after stopping treatment.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
1 citations
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January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
Collider bias can mislead our understanding of COVID-19 risk and severity.
223 citations
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September 2018 in “Rheumatology” JAK inhibitors are effective in treating various immune-related diseases, not just rheumatoid arthritis.