August 2023 in “Journal of the European Academy of Dermatology and Venereology” Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
November 2023 in “Heliyon” A woman got a serious eye infection after a hair loss treatment due to improper procedure.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
4 citations
,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
1 citations
,
March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
April 2018 in “Journal of Investigative Dermatology” Ovol2 is important for proper skin healing and hair growth.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
1 citations
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December 2020 in “Case reports in dermatological medicine” A patient with pemphigus vulgaris improved significantly after treatment for an additional viral skin infection.
1 citations
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July 2021 in “International Journal of Cosmetics and Dermatology” Vitiligo often runs in families and is linked to genetics and autoimmune factors.
February 2026 in “Journal of the American Academy of Dermatology” Ophiasis mainly affects females, lasts longer, and has lower regrowth rates, with a new classification system helping predict treatment response.
January 2026 in “Immunity & Inflammation” Autoimmune skin diseases result from genetic and environmental factors disrupting immune checkpoints.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
2 citations
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January 2019 in “Springer eBooks” Segmental Vitiligo is a stable, early-onset form of vitiligo that responds well to early treatment and is ideal for repigmentation studies.