October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
2 citations
,
January 1970 in “Asian journal of pharmaceutical research and development” PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.
February 2020 in “Spiral (Imperial College London)” Duodenal mucosal resurfacing did not improve insulin sensitivity or reproductive function in women with PCOS.
April 2023 in “Elsevier eBooks” PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
April 2019 in “Journal of the Endocrine Society” Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
1 citations
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June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
99 citations
,
August 2003 in “Fertility and Sterility” Too much male hormone is the main cause of Polycystic Ovary Syndrome.
January 2025 in “International Journal of Trichology” Loose anagen hair syndrome in children often resolves on its own.
1 citations
,
January 2018 in “Journal of Gynecologic Surgery” Removing both ovaries can treat increased testosterone and related symptoms in postmenopausal women with ovarian hyperthecosis.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
3 citations
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July 2015 in “International Journal of School Health” The most common PCOS type in adolescents is hyperandrogenic with polycystic ovaries.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
3 citations
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May 2023 in “Endocrine Abstracts” PCOS has three subtypes, with 11-oxygenated androgens increasing metabolic risk.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
1 citations
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January 2021 in “Prague medical report” Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.