10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
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.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
58 citations
,
November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
6 citations
,
September 2024 in “Frontiers in Physiology” Overexpression of R-spondin 3 leads to sparse hair and impaired hair regeneration.
December 2020 in “International journal of medical science and clinical invention” Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
50 citations
,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
3 citations
,
July 2018 in “Elsevier eBooks” Erosive pustular dermatosis of the scalp is a rare condition that causes scarring hair loss, mainly in older women, and requires ongoing treatment.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.