March 2023 in “Bagcılar medical bulletin” A young woman had a rare tumor causing high male hormone levels and symptoms like excessive hair and acne. After removing the tumor, her hormone levels returned to normal. Early diagnosis is important.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
July 2026 in “Frontiers in Endocrinology” A young girl had a hormone-secreting tumor removed, leading to decreased hormone levels, but ongoing monitoring is needed.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
Higher alarin levels might link hair loss and metabolic syndrome.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
November 2023 in “JCEM Case Reports” A postmenopausal woman's excess male hormone symptoms improved after her ovaries were removed.
1 citations
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August 2023 in “Case Reports in Women s Health” Leydig cell hyperplasia can cause virilization in postmenopausal women and is treatable with surgery.
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.
26 citations
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October 1999 in “Archives of Dermatology” Curly hair in certain scalp areas can be an early sign of hair loss.
September 2017 in “Pediatric Dermatology” A 14-year-old boy was diagnosed with a rare hair condition that may lead to hair thinning and has no known effective treatments.
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.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
42 citations
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September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
69 citations
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April 2010 in “British Journal of Dermatology” Balding men, especially young ones, may have higher risk of heart issues and diabetes; check cholesterol levels.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
January 2025 in “Indian Dermatology Online Journal” Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
4 citations
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February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
3 citations
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May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.