63 citations
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January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
2 citations
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October 2021 in “Bioinformation” Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
February 2026 in “Pediatric Dermatology” 1 citations
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November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
April 2023 in “Research Square (Research Square)” A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
7 citations
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October 2012 in “S. Karger AG eBooks” Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
September 2022 in “Women's healthcare” PCOS is managed by lifestyle changes and personalized medication to improve symptoms and fertility.
2 citations
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September 2021 in “Universal Journal of Pharmaceutical Research” PCOS is linked to hormone disorders and issues like infertility and irregular periods.
September 2023 in “Reproductive health of woman” PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
36 citations
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November 2009 in “European Radiology” The study found that women with PCOS have more and larger ovarian follicles and differences in ovarian structure, but these features alone can't always diagnose PCOS.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
January 2020 in “Case reports in endocrinology” Removing one ovary helped treat a woman's severe PCOS symptoms when medicine didn't work.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
January 2026 in “Brazilian Journal of Development” Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
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.
286 citations
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January 2009 in “Human Reproduction Update” Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
203 citations
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December 1947 in “Annals of Internal Medicine” 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.