2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
October 2022 in “JAAD international” Most patients with autoimmune blistering diseases experienced some hair loss, which may be underreported and linked to disease severity.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
42 citations
,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
August 2021 in “Journal of the American Academy of Dermatology” The shampoo's ingredients' effect on a hair growth pathway in cells was tested, but the results are not given.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
33 citations
,
July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
22 citations
,
January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
May 2026 in “Journal of Health Sciences and Medicine” Biotinoyl tripeptide-1 nanoparticles effectively protect hair from heat damage.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
January 2022 in “Social Science Research Network” Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
1 citations
,
January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
69 citations
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August 1988 in “Journal of Investigative Dermatology”
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.