A new genetic mutation was found causing hair and eye issues in a boy.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
6 citations
,
November 2023 in “Stem Cell Reports” Stem cells in the cornea show unexpected flexibility and have important implications for medicine.
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.
5 citations
,
September 2009 in “Acta Ophthalmologica” Hyper-keratinisation in Meibomian glands contributes to gland dysfunction.
21 citations
,
August 2002 in “British Journal of Ophthalmology”
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
7 citations
,
January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
7 citations
,
February 2002 in “Veterinary Dermatology” Intracorneal vacuoles are common in parakeratotic skin diseases in dogs, especially with more parakeratosis.
20 citations
,
April 2009 in “Cell Biology International” Hair follicle stem cells can become corneal-like cells with the help of pax6.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
4 citations
,
January 2021 in “Dermatology Review” Demodex mites can cause eye problems like itching, dry eyes, and styes.
27 citations
,
May 2011 in “Current Opinion in Ophthalmology” New treatments using stem cells and special materials show promise for severe eye surface disease.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
2 citations
,
December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
June 2025 in “Veterinární Medicína” Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
15 citations
,
June 2021 in “Medicina” Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
15 citations
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November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.