January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
November 2025 in “Asian Journal of Medical Sciences” Early menarche may indicate higher risk of severe hirsutism in PCOS patients.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
2 citations
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January 2016 in “Andrology” January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
34 citations
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June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
January 2022 in “Acta Scientific Women's Health” Early diagnosis and treatment of PCOS can prevent complications and improve symptoms.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
7 citations
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February 2019 in “Journal of gynecology obstetrics and human reproduction” People with polycystic ovary syndrome (PCOS) are more likely to have higher levels of depression and anxiety, but their personality traits are similar to those without PCOS.
1 citations
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January 2019 in “Via Medica Journals” Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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.
March 2023 in “Scholars international journal of obstetrics and gynecology” PCOS is a complex condition that affects women's hormonal balance and metabolism, requiring lifestyle changes and medical management.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
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.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
38 citations
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May 2006 in “Archives of Gynecology and Obstetrics” Women with only irregular periods or excess hair have a better hormone profile than those with full PCOS, but both groups are similar, indicating a need for better PCOS diagnosis methods.
April 2020 in “Journal of the Endocrine Society” Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.
97 citations
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January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
9 citations
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July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
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.
1 citations
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January 2022 in “Pakistan BioMedical Journal” Many young women are unaware of PCOS symptoms, and poor diets worsen their menstrual cycles.
1540 citations
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October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1 citations
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January 2014 in “Health Renaissance” Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.