December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
10 citations
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October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
January 2025 in “Case Reports in Medicine” Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
46 citations
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October 2009 in “Archives of Dermatology” Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.
21 citations
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January 2020 in “Brazilian Journal of Medical and Biological Research” H19 may help cause PCOS by affecting CTGF levels, suggesting a new treatment target.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
Defective nuclear transport may cause gene expression changes in Progeria.
January 2006 in “DOAJ (DOAJ: Directory of Open Access Journals)” Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
June 2020 in “AACE clinical case reports” A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
3 citations
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January 1988 in “PubMed” High prolactin levels can cause skin and hair symptoms similar to those caused by hormone imbalances.
2 citations
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January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
October 2010 in “Reproductive Biomedicine Online” Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.
July 2015 in “NEJM Journal Watch” Diagnosing and treating PCOS in young people is difficult.
October 2018 in “The American Journal of Gastroenterology” Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
May 2025 in “The Journal of Rheumatology” Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
45 citations
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February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
January 2022 in “The Pan African medical journal” Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
7 citations
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
40 citations
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August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.