April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
1 citations
,
October 2014 in “Paediatrics and Child Health” The document concludes that proper diagnosis and management of hair loss in children require a detailed examination and understanding of various hair disorders.
31 citations
,
November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
30 citations
,
August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
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.
1 citations
,
October 2019 in “Epileptic disorders” A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
169 citations
,
May 2006 in “Genes & Development” Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
25 citations
,
October 1996 in “Dermatologic Clinics” Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
November 2021 in “International journal of research - granthaalayah” The document suggests that human hair has electrical charges because of a gap in nerve cell coverage that affects electromagnetic radiation.
85 citations
,
February 1989 in “Journal of The American Academy of Dermatology” Children with loose anagen hair have easily pluckable hair due to root sheath problems, and it might improve without treatment.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
4 citations
,
November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
102 citations
,
February 2008 in “The FASEB Journal” One minoxidil-sensitive potassium channel exists in human hair follicles.
November 2023 in “International Journal of Trichology” Alopecia areata may be linked to kidney issues, but more research is needed.
April 2003 in “Experimental Dermatology” The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
August 2004 in “Veterinary Dermatology” Adult-onset hair loss in Chesapeake Bay retrievers may be linked to abnormal adrenal hormone production.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
March 2018 in “New scientist”