6 citations
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October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
November 2024 in “Elsevier eBooks”
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
17 citations
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January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
17 citations
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February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
April 2018 in “Journal of Investigative Dermatology” The keratin network in mouse skin changes during cornification and affects the skin's protective barrier.
14 citations
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November 1979 in “Pediatric Research” 7 citations
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January 2017 in “Sub-cellular biochemistry/Subcellular biochemistry” 41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
A 21-year-old with lichen planopilaris was successfully treated, stopping disease progression and preventing crusts.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
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November 1959 in “Annals of the New York Academy of Sciences” 11 citations
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January 2015 in “JOURNAL OF HEALTH SCIENCE” A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
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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.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
October 1990 in “Spectrum Research Repository (Concordia University)”
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
6 citations
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October 2006 in “International Journal of Dermatology” Hair splitting and nail detachment are linked conditions.
78 citations
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April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
January 2022 in “The Pan African medical journal” Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
33 citations
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June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
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July 1993 in “Journal of Investigative Dermatology”
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April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.