8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
30 citations
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January 1999 in “Journal of Cutaneous Pathology” Spiny keratoderma may be ectopic hair formation on palms and soles.
4 citations
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August 2023 in “Nature Communications” Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.
102 citations
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February 2008 in “The FASEB Journal” One minoxidil-sensitive potassium channel exists in human hair follicles.
8 citations
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April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
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.
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.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
14 citations
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October 2020 in “Scientific reports” Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
9 citations
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January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
Diagnosing and managing monilethrix is harder when it occurs with other hair loss conditions.
Diagnosing and managing monilethrix is harder when it occurs with other hair loss conditions.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
9 citations
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February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
1 citations
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August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
January 2026 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Corkscrew hairs can help diagnose trichotillomania.
1 citations
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June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
December 2024 in “Brazilian Journal of Hair Health” Treating both bipolar disorder and hair-related BDD with psychiatric medications improved the patient's symptoms.