July 2022 in “Indian Journal of Otology” A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
October 2017 in “The Egyptian Journal of Hospital Medicine ” More young women are getting diagnosed with PCOS, which can lead to other health problems, but early treatment can help.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
4 citations
,
January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
May 2025 in “Pediatric Dermatology” Topical and oral minoxidil are the best treatments for monilethrix.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
194 citations
,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
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November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
1 citations
,
February 2017 in “MOJ bioequivalence & bioavailability” Treating hair loss effectively may require a multi-sided approach, using different treatments together, and topical treatments could be more effective and safer than oral ones.
1 citations
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January 2016 in “Dermatology Online Journal” Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
101 citations
,
July 1985 in “Journal of the American Academy of Dermatology” Biotin improved hair growth and combability in one child with uncombable hair syndrome.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
46 citations
,
November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
36 citations
,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.