June 2021 in “International journal of research in dermatology” Shaving and avoiding brushing improved the patient's beard hair condition.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
A new genetic mutation was found causing hair and eye issues in a boy.
November 2017 in “Pediatrics in Review” A 4-year-old girl with hair loss was diagnosed with early-onset trichotillomania and improved with behavioral interventions.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
February 2026 in “Medical Science and Discovery” Early diagnosis and comprehensive treatment can significantly improve trichotillomania in children.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
August 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Rubbing or pressing on the face can cause small bumps, and changing posture along with certain creams can improve them.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
5 citations
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November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
73 citations
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January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
4 citations
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January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.