25 citations
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January 1983 in “Archives of dermatology” The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
27 citations
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
37 citations
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August 2009 in “Journal of the American Academy of Child & Adolescent Psychiatry” Trichotillomania is a chronic hair-pulling disorder that starts in early teens and causes distress and hair loss.
January 2017 in “프로그램북(구 초록집)” Iron deficiency anemia can cause hair breakage.
June 1995 in “Archives of Dermatology” A woman's hair loss was due to trichotillomania, which is often misdiagnosed and can require different treatments based on age and underlying conditions.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
5 citations
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January 1981 Keratin proteins in hair are complex and come from multiple gene families.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
211 citations
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
10 citations
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August 2020 in “Current protocols in stem cell biology” Scientists developed a way to create skin and hair cells from human stem cells, which could help treat burns and restore hair.
1 citations
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September 1993 in “Archives of Disease in Childhood” Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
13 citations
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January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
January 2021 in “Nasza Dermatologia Online” Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
22 citations
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January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
36 citations
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January 2004 in “European journal of cell biology” Without keratin 10, there's more growth and development of oil-producing skin cells.
12 citations
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March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
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.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
13 citations
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July 2007 in “Pediatric dermatology” Vitamin D3 ointment improved skin bumps on the chin but didn't give lasting results after stopping use.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
January 2016 in “Dermatology Review” Endocrine disorders can cause various skin and hair issues.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
1 citations
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November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
38 citations
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October 2001 in “British Journal of Dermatology” Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
January 2021 in “Skin Appendage Disorders”