3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
2 citations
,
January 2012 in “PubMed” A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.
88 citations
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March 2004 in “Journal of Investigative Dermatology” 12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
111 citations
,
May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
23 citations
,
March 1998 in “BMJ” Haemochromatosis can cause infertility by affecting hormone glands.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
January 2025 in “Case Reports in Medicine” Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
May 2016 in “Endocrine Abstracts” The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.
10 citations
,
May 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” Allopregnanolone increases KCC2 expression in baby male rats' brains, while finasteride doesn't affect it.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
August 2017 in “韓方眼耳鼻咽喉皮膚科學會誌 = The journal of Korean Medicine Ophthalmology & Otolaryngology & Dermatology” Early-onset male baldness is significantly linked to a higher risk of metabolic syndrome.
Balding men are more likely to have metabolic syndrome.
1 citations
,
January 2012 in “International Journal of Trichology” Early hair loss in men and women may indicate a higher risk of heart disease and metabolic problems.
24 citations
,
January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
October 2023 in “Journal of the Endocrine Society” A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
November 2024 in “Future Science OA” A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.
December 2025 in “Actas Dermo-Sifiliográficas” October 2025 in “F1000Research” Postmenopausal women with excess male hormones may have ovarian tumors, and surgery usually cures them.
December 2020 in “Research Square (Research Square)” Rare ovarian tumors can cause increased male hormones in postmenopausal women; surgery is an effective treatment.
22 citations
,
June 2010 in “Experimental Dermatology” Lower MC2R expression may contribute to alopecia areata.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
6 citations
,
January 2015 in “Journal of The European Academy of Dermatology and Venereology” Different hair loss types need accurate diagnosis for proper treatment.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.