2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
4 citations
,
April 1983 in “The Journal of Dermatology” A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
9 citations
,
January 2001 in “Dermatology” Pili anulati may cause hair loss, proper diagnosis and treatment needed.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
6 citations
,
February 2016 in “American Journal of Dermatopathology” The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
15 citations
,
October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
122 citations
,
January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
10 citations
,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
4 citations
,
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.
June 2018 in “British Journal of Dermatology” Hair cells lose their nucleus and mitochondria in a specific order as they fill with keratin, which could help develop treatments for hair issues.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
A new genetic mutation was found causing hair and eye issues in a boy.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
2 citations
,
February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.