July 2018 in “Nasza Dermatologia Online” Frontal fibrosing alopecia and ulerythema ophryogenes may be related and can evolve from one to the other.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
October 2022 in “Aesthetic Cosmetology and Medicine” PCOS often causes skin problems due to hormonal and metabolic imbalances.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
June 2025 in “Journal of Ovarian Research” Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
2 citations
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August 1999 in “PubMed” 12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
January 2022 in “Dubai diabetes and endocrinology journal/Dubai diabetes & endocrinology journal” A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
2 citations
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May 2006 in “Women's Health Medicine” PCOS is diagnosed when at least two of these three features are present: polycystic ovaries, irregular ovulation, and high androgen levels.
4 citations
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August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
1 citations
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January 2004 in “Elsevier eBooks” Polycystic Ovarian Syndrome (PCOS) is a common condition causing fertility issues and other symptoms, with unclear causes and treatments focused on improving insulin sensitivity.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
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.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
April 2023 in “Elsevier eBooks” PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
352 citations
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January 2006 in “The Journal of Clinical Endocrinology and Metabolism” Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
5 citations
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March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
34 citations
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February 2012 in “International Journal of Dermatology” Dermatoscopy can help identify hydroquinone-induced skin issues, avoiding invasive biopsies.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
96 citations
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February 2007 in “The Journal of Clinical Endocrinology & Metabolism” Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.
April 2023 in “Journal of Investigative Dermatology” Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.