April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
2 citations
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June 2017 in “Journal of The American Academy of Dermatology” The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
July 2021 in “International Journal of Homoeopathic Sciences” Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
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.
June 2012 in “Springer eBooks” Eating disorders can cause various hair problems, and while hair loss in these disorders is linked to metabolic syndrome, treatment focuses on specific medications and lifestyle changes for the syndrome.
91 citations
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July 2020 in “JAMA Dermatology” Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
1 citations
,
November 2003 in “Annals of saudi medicine/Annals of Saudi medicine” A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
3 citations
,
June 2021 in “Case Reports in Infectious Diseases” Fungal infections should be considered in scalp swelling to avoid misdiagnosis.
October 2024 in “Journal of the Endocrine Society” Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
2 citations
,
May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
14 citations
,
January 2019 in “Skin appendage disorders” PFS might be a delusional disorder with potential to become mass psychogenic illness.
15 citations
,
May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
1 citations
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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
3 citations
,
May 2019 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.
47 citations
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February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
May 2021 in “Medicina internă” High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
4 citations
,
February 2011 in “Annals of internal medicine” The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.
January 2026 in “Journal of Contemporary Studies in Epidemiology and Public Health” Women with PCOS often have severe PMS, but managing anemia and regular menstruation can help reduce symptoms.
2 citations
,
January 2023 in “Annals of Dermatology” A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
25 citations
,
May 1995 in “Journal of the American Academy of Dermatology” Erythromelanosis follicularis faciei can also affect women, though it's rare.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.