109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
1 citations
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July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
4 citations
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November 2016 in “The Journal of Dermatology” Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
20 citations
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July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
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.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
15 citations
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March 1996 in “PubMed” Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
2 citations
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June 2010 in “Medicina de Familia SEMERGEN” The girl's "dandruff" was actually harmless hair casts, not a hygiene issue.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
2 citations
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July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
35 citations
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September 2003 in “Archives of dermatology” Tiger tail bands in hair are caused by wavy hair fibers with melanin, unlike straight fibers in normal hair.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
1 citations
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July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
175 citations
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August 1997 in “Nature Genetics” 14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.