11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
October 2020 in “ACSMʼs Health & Fitness Journal” Different health issues need specific treatments for effective management.
2 citations
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January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
June 2002 in “Current obstetrics and gynaecology/Current obstetrics & gynaecology” Hirsutism, excessive hair growth in women, often caused by high androgen levels and polycystic ovary syndrome, can be treated with medication and weight management.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
5 citations
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October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
212 citations
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May 2010 in “American Journal of Obstetrics and Gynecology” Diagnosing PCOS in teenagers is challenging and should use strict criteria to avoid misdiagnosis and unnecessary worry.
March 2025 in “Journal of Pediatric Endocrinology and Metabolism” Elevated testosterone, DHEA-S, and FAI help identify PCOS risk in menstrual irregularities.
19 citations
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January 2017 in “Hormone Molecular Biology and Clinical Investigation” High levels of male hormones are very common in women with PCOS and affect their metabolism differently depending on their weight.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
2 citations
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October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
October 2025 in “The American Journal of Gastroenterology” Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
35 citations
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June 1997 in “Annals of the New York Academy of Sciences” Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
April 2017 in “Journal of Investigative Dermatology” Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.