1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
78 citations
,
June 1989 in “The Journal of dermatologic surgery and oncology” Acne keloidalis is a chronic skin condition on the back of the neck in young black men, needing surgery for severe cases.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
67 citations
,
January 1992 in “Journal of Investigative Dermatology” 33 citations
,
September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
18 citations
,
November 2005 in “European Journal of Cell Biology” Keratin gene clusters in humans and marsupials are similarly organized.
December 2014 in “Endocrinología y nutrición” The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
1 citations
,
January 1997 in “Dialnet (Universidad de la Rioja)” The extracellular matrix is crucial for maintaining and regulating epidermal stem cells in hair follicles.
37 citations
,
May 2016 in “JAAD case reports” Oral minoxidil shows promise in treating monilethrix-related hair loss.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
98 citations
,
December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
76 citations
,
February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
January 2026 in “Current Issues in Molecular Biology” miR-5110 affects alpaca pigmentation by altering specific gene expressions.
79 citations
,
August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
2 citations
,
March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” Kainar syndrome symptoms may be linked to nuclear test exposure effects.
16 citations
,
November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
64 citations
,
July 1997 in “Journal of The American Academy of Dermatology” Finding eosinophils near hair bulbs helps diagnose alopecia areata.
2 citations
,
March 1994 in “Oncology Reports” Keratoacanthomas and squamous cell carcinomas have similar keratin patterns, making them hard to tell apart.
September 2023 in “Journal of the American Academy of Dermatology” Oral difelikefalin significantly reduces itch in notalgia paresthetica.
13 citations
,
August 1999 in “Journal of Investigative Dermatology” Bikunin is found on the cell boundaries of certain skin layers and may help regulate skin and hair functions.