December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
January 2021 in “Pediatric Oncall” Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
5 citations
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March 2023 in “International Journal of Trichology” Alopecia areata patients may have higher cardiovascular risk factors, so screening for metabolic syndrome components is suggested.
April 2016 in “Journal of The American Academy of Dermatology” The study found that Temporal Triangular Alopecia often starts in early childhood, mainly affects the left side of the scalp, and has no effective treatment except surgery.
October 2023 in “CHEST Journal” Early recognition and treatment of severe SLE symptoms can improve outcomes.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
55 citations
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December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
August 2025 in “International Journal of Cancer” Childhood and adult height, and early immune-related hospitalizations increase testicular cancer risk, while baldness, larger families, and sports reduce it.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
April 2023 in “International journal of medical and biomedical studies” Early screening for Metabolic Syndrome in hair loss patients can help prevent heart disease.
49 citations
,
November 2012 in “Journal of neurology, neurosurgery and psychiatry” Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
15 citations
,
March 2009 in “Pediatric dermatology” A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
60 citations
,
February 2003 in “Postgraduate Medical Journal” Early diagnosis and haemodialysis can effectively treat thallium poisoning.
17 citations
,
September 2009 in “British Journal of Dermatology” Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
13 citations
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October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
5 citations
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October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.